UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
805251
ClinVar RCV Id:
RCV000992719
dbSNP Id:
rs1555358095
COSMIC:
COSM3793832
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73217154C>A , CM000676.2:g.73217154C>A | GRCh38 |
| NC_000014.8:g.73683862C>A , CM000676.1:g.73683862C>A | GRCh37 |
| NC_000014.7:g.72753615C>A | NCBI36 |
| NG_007386.2:g.85684C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553599.6:c.1146C>A | ENSP00000452477.2:p.Phe382Leu | |
| ENST00000554131.6:c.1158C>A | ENSP00000451915.2:p.Phe386Leu | |
| ENST00000554995.2:n.1908C>A | ||
| ENST00000555386.6:c.*113C>A | ENSP00000450845.1:n.*113C>A | |
| ENST00000556066.2:n.1584C>A | ||
| ENST00000556951.6:c.1146C>A | ENSP00000450551.2:p.Phe382Leu | |
| ENST00000557293.6:c.1038C>A | ENSP00000451880.2:p.Phe346Leu | |
| ENST00000559361.6:c.*1102C>A | ENSP00000454156.1:n.*1102C>A | |
| ENST00000697912.1:c.*346C>A | ENSP00000513477.1:n.*346C>A | |
| ENST00000697913.1:n.6708C>A | ||
| ENST00000697915.1:n.515C>A | ||
| ENST00000700265.1:c.1146C>A | ENSP00000514901.1:p.Phe382Leu | |
| ENST00000700266.1:c.*1370C>A | ENSP00000514902.1:n.*1370C>A | |
| ENST00000700267.1:c.1158C>A | ENSP00000514903.1:p.Phe386Leu | |
| ENST00000700268.1:c.1158C>A | ENSP00000514904.1:p.Phe386Leu | |
| ENST00000700269.1:c.1158C>A | ENSP00000514905.1:p.Phe386Leu | |
| ENST00000700271.1:c.972C>A | ENSP00000514906.1:p.Phe324Leu | |
| ENST00000700272.1:c.*1102C>A | ENSP00000514907.1:n.*1102C>A | |
| ENST00000700273.1:c.1146C>A | ENSP00000514908.1:p.Phe382Leu | |
| ENST00000700302.1:c.1201C>A | ENSP00000514929.1:p.His401Asn | |
| ENST00000700303.1:c.*820C>A | ENSP00000514930.1:n.*820C>A | |
| ENST00000700304.1:c.*1102C>A | ENSP00000514931.1:n.*1102C>A | |
| ENST00000700305.1:c.*716C>A | ENSP00000514932.1:n.*716C>A | |
| ENST00000700306.1:c.1158C>A | ENSP00000514933.1:p.Phe386Leu | |
| ENST00000700307.1:c.1059C>A | ENSP00000514934.1:p.Phe353Leu | |
| ENST00000700308.1:c.*1102C>A | ENSP00000514935.1:n.*1102C>A | |
| ENST00000700309.1:c.*1247C>A | ENSP00000514936.1:n.*1247C>A | |
| ENST00000700310.1:c.*113C>A | ENSP00000514937.1:n.*113C>A | |
| ENST00000700311.1:c.1201C>A | ENSP00000514938.1:p.His401Asn | |
| ENST00000700312.1:c.909C>A | ENSP00000514939.1:p.Phe303Leu | |
| ENST00000700313.1:c.1146C>A | ENSP00000514940.1:p.Phe382Leu | |
| ENST00000700314.1:c.*1097C>A | ENSP00000514941.1:n.*1097C>A | |
| ENST00000700315.1:c.*716C>A | ENSP00000514942.1:n.*716C>A | |
| ENST00000700316.1:c.*938C>A | ENSP00000514943.1:n.*938C>A | |
| ENST00000700317.1:c.1158C>A | ENSP00000514944.1:p.Phe386Leu | |
| ENST00000700318.1:c.*820C>A | ENSP00000514945.1:n.*820C>A | |
| ENST00000700319.1:c.*598C>A | ENSP00000514946.1:n.*598C>A | |
| ENST00000700320.1:c.1185C>A | ENSP00000514947.1:p.Phe395Leu | |
| ENST00000700321.1:c.1158C>A | ENSP00000514948.1:p.Phe386Leu | |
| ENST00000700322.1:c.1146C>A | ENSP00000514949.1:p.Phe382Leu | |
| ENST00000700323.1:c.1158C>A | ENSP00000514950.1:p.Phe386Leu | |
| ENST00000700324.1:c.1146C>A | ENSP00000514951.1:p.Phe382Leu | |
| ENST00000700375.1:c.1158C>A | ENSP00000514966.1:p.Phe386Leu | |
| ENST00000700377.1:c.*626C>A | ENSP00000514967.1:n.*626C>A | |
| ENST00000700378.1:c.1158C>A | ENSP00000514968.1:p.Phe386Leu | |
| ENST00000700379.1:n.1556C>A | ||
| ENST00000700389.1:c.1146C>A | ENSP00000514970.1:p.Phe382Leu | |
| ENST00000700390.1:n.2869C>A | ||
| ENST00000700391.1:n.369C>A | ||
| ENST00000700404.1:n.2157C>A | ||
| ENST00000700436.1:c.*113C>A | ENSP00000514987.1:n.*113C>A | |
| ENST00000700437.1:c.909C>A | ENSP00000514988.1:p.Phe303Leu | |
| ENST00000700468.1:c.1047C>A | ENSP00000515001.1:p.Phe349Leu | |
| ENST00000700469.1:c.1146C>A | ENSP00000515002.1:p.Phe382Leu | |
| ENST00000324501.10:c.1158C>A MANE Select | ENSP00000326366.5:p.Phe386Leu | |
| ENST00000324501.9:c.1158C>A | ENSP00000326366.5:p.Phe386Leu | |
| ENST00000357710.8:c.1146C>A | ENSP00000350342.4:p.Phe382Leu | |
| ENST00000394164.5:c.1146C>A | ENSP00000377719.1:p.Phe382Leu | |
| ENST00000406768.1:c.882C>A | ENSP00000385948.1:p.Phe294Leu | |
| ENST00000553855.5:c.1250C>A | ENSP00000452242.1:n.1250C>A | |
| ENST00000555386.5:c.1238C>A | ENSP00000450845.1:n.1238C>A | |
| ENST00000555867.1:n.523C>A | ||
| ENST00000557511.5:c.984C>A | ENSP00000451429.1:p.Phe328Leu | |
| NM_000021.3:c.1158C>A | NP_000012.1:p.Phe386Leu | |
| NM_007318.2:c.1146C>A | NP_015557.2:p.Phe382Leu | |
| XM_005267864.1:c.1158C>A | XP_005267921.1:p.Phe386Leu | |
| XM_005267866.1:c.1146C>A | XP_005267923.1:p.Phe382Leu | |
| XM_011536971.1:c.1158C>A | XP_011535273.1:p.Phe386Leu | |
| XM_011536972.1:c.1158C>A | XP_011535274.1:p.Phe386Leu | |
| XM_011536973.1:c.1146C>A | XP_011535275.1:p.Phe382Leu | |
| XM_011536974.1:c.1146C>A | XP_011535276.1:p.Phe382Leu | |
| XM_005267864.3:c.1158C>A | XP_005267921.1:p.Phe386Leu | |
| XM_005267866.2:c.1146C>A | XP_005267923.1:p.Phe382Leu | |
| XM_011536972.2:c.1158C>A | XP_011535274.1:p.Phe386Leu | |
| XM_011536973.2:c.1146C>A | XP_011535275.1:p.Phe382Leu | |
| XM_011536974.2:c.1146C>A | XP_011535276.1:p.Phe382Leu | |
| NM_000021.4:c.1158C>A MANE Select | NP_000012.1:p.Phe386Leu | |
| NM_007318.3:c.1146C>A | NP_015557.2:p.Phe382Leu |