Linked Data
ClinVar Variation Id:
7274
dbSNP Id:
rs121909105
gnomAD v2:
18-55342081-G-A
gnomAD v3:
18-57674849-G-A
gnomAD v4:
18-57674849-G-A
COSMIC:
COSM989165
PubMed:
PMID:15317749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57674849G>A , CM000680.2:g.57674849G>A | GRCh38 |
| NC_000018.9:g.55342081G>A , CM000680.1:g.55342081G>A | GRCh37 |
| NC_000018.8:g.53493079G>A | NCBI36 |
| NG_007148.2:g.133247C>T | |
| NG_007148.3:g.133974C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642462.1:c.1804C>T | ENSP00000494712.1:p.Arg602Ter | |
| ENST00000648039.1:c.1804C>T | ENSP00000497863.1:p.Arg602Ter | |
| ENST00000648467.1:c.1669C>T | ||
| ENST00000648908.2:c.1804C>T MANE Select | ENSP00000497896.1:p.Arg602Ter | |
| ENST00000283684.8:c.1804C>T | ENSP00000283684.4:p.Arg602Ter | |
| ENST00000536015.5:c.1804C>T | ENSP00000445359.1:p.Arg602Ter | |
| NM_005603.4:c.1804C>T | NP_005594.1:p.Arg602Ter | |
| XM_006722481.2:c.1804C>T | XP_006722544.1:p.Arg602Ter | |
| XM_011526020.1:c.1804C>T | XP_011524322.1:p.Arg602Ter | |
| XM_011526021.1:c.1804C>T | XP_011524323.1:p.Arg602Ter | |
| XM_011526022.1:c.1804C>T | XP_011524324.1:p.Arg602Ter | |
| XM_011526023.1:c.1690C>T | XP_011524325.1:p.Arg564Ter | |
| XM_011526024.1:c.1084C>T | XP_011524326.1:p.Arg362Ter | |
| NM_005603.6:c.1804C>T | NP_005594.2:p.Arg602Ter | |
| XM_006722481.4:c.1804C>T | XP_006722544.1:p.Arg602Ter | |
| XM_011526023.3:c.1690C>T | XP_011524325.1:p.Arg564Ter | |
| NM_001374385.1:c.1804C>T MANE Select | NP_001361314.1:p.Arg602Ter | |
| NM_001374386.1:c.1654C>T | NP_001361315.1:p.Arg552Ter |