Linked Data
ClinVar Variation Id:
916017
ClinVar RCV Id:
RCV001171502
dbSNP Id:
rs1157997148
gnomAD v2:
2-26680910-A-G
gnomAD v3:
2-26458042-A-G
gnomAD v4:
2-26458042-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26458042A>G , CM000664.2:g.26458042A>G | GRCh38 |
| NC_000002.11:g.26680910A>G , CM000664.1:g.26680910A>G | GRCh37 |
| NC_000002.10:g.26534414A>G | NCBI36 |
| NG_009937.1:g.105657T>C | |
| NG_042824.1:g.61131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.*196T>C MANE Select | ENSP00000272371.2:n.*196T>C | |
| ENST00000339598.8:c.3691T>C MANE Plus Clinical | ENSP00000344521.3:p.Ter1231Arg | |
| ENST00000402415.8:c.*196T>C | ENSP00000383906.4:n.*196T>C | |
| ENST00000272371.6:c.*196T>C | ENSP00000272371.2:n.*196T>C | |
| ENST00000338581.10:c.*196T>C | ENSP00000345137.6:n.*196T>C | |
| ENST00000339598.7:c.3691T>C | ENSP00000344521.3:p.Ter1231Arg | |
| ENST00000402415.7:c.*196T>C | ENSP00000383906.3:n.*196T>C | |
| ENST00000403946.7:c.5992T>C | ENSP00000385255.3:p.Ter1998Arg | |
| NM_001287489.1:c.5992T>C | NP_001274418.1:p.Ter1998Arg | |
| NM_004802.3:c.*196T>C | NP_004793.2:n.*196T>C | |
| NM_194248.2:c.*196T>C | NP_919224.1:n.*196T>C | |
| NM_194322.2:c.*196T>C | NP_919303.1:n.*196T>C | |
| NM_194323.2:c.3691T>C | NP_919304.1:p.Ter1231Arg | |
| XM_005264644.2:c.5977T>C | XP_005264701.1:p.Ter1993Arg | |
| XM_011533185.1:c.6037T>C | XP_011531487.1:p.Ter2013Arg | |
| NM_001287489.2:c.5992T>C | NP_001274418.1:p.Ter1998Arg | |
| NM_004802.4:c.*196T>C | NP_004793.2:n.*196T>C | |
| NM_194248.3:c.*196T>C MANE Select | NP_919224.1:n.*196T>C | |
| NM_194322.3:c.*196T>C | NP_919303.1:n.*196T>C | |
| NM_194323.3:c.3691T>C MANE Plus Clinical | NP_919304.1:p.Ter1231Arg |