Linked Data
ClinVar Variation Id:
285857
ClinVar RCV Id:
RCV000287938
RCV000293888
RCV000351106
RCV000389289
RCV000539271
RCV000721359
RCV001450014
RCV002487228
dbSNP Id:
rs768360593
ExAC:
19:39068655 G / A
gnomAD v2:
19-39068655-G-A
gnomAD v3:
19-38578015-G-A
gnomAD v4:
19-38578015-G-A
COSMIC:
COSM3797042
ERepo:
CA061023/MONDO:0018493/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578015G>A , CM000681.2:g.38578015G>A | GRCh38 |
| NC_000019.9:g.39068655G>A , CM000681.1:g.39068655G>A | GRCh37 |
| NC_000019.8:g.43760495G>A | NCBI36 |
| NG_008866.1:g.149316G>A , LRG_766:g.149316G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1206G>A | ||
| ENST00000688602.1:c.2603G>A | ||
| ENST00000689936.1:c.2575G>A | ||
| ENST00000359596.8:c.14270G>A MANE Select | ENSP00000352608.2:p.Arg4757His | |
| ENST00000355481.8:c.14255G>A | ENSP00000347667.3:p.Arg4752His | |
| ENST00000359596.7:c.14270G>A | ENSP00000352608.2:p.Arg4757His | |
| ENST00000360985.7:c.14252G>A | ENSP00000354254.4:p.Arg4751His | |
| NM_000540.2:c.14270G>A , LRG_766t1:c.14270G>A | NP_000531.2:p.Arg4757His | |
| NM_001042723.1:c.14255G>A | NP_001036188.1:p.Arg4752His | |
| XM_006723317.1:c.14252G>A | XP_006723380.1:p.Arg4751His | |
| XM_006723319.1:c.14237G>A | XP_006723382.1:p.Arg4746His | |
| XM_011527204.1:c.14267G>A | XP_011525506.1:p.Arg4756His | |
| XM_011527205.1:c.14183G>A | XP_011525507.1:p.Arg4728His | |
| XM_006723317.2:c.14252G>A | XP_006723380.1:p.Arg4751His | |
| XM_006723319.2:c.14237G>A | XP_006723382.1:p.Arg4746His | |
| XM_011527205.2:c.14183G>A | XP_011525507.1:p.Arg4728His | |
| NM_000540.3:c.14270G>A MANE Select | NP_000531.2:p.Arg4757His | |
| NM_001042723.2:c.14255G>A | NP_001036188.1:p.Arg4752His |