Linked Data
ClinVar Variation Id:
1685
ClinVar RCV Id:
RCV000001753
dbSNP Id:
rs121434331
ExAC:
19:12760232 G / A
gnomAD v2:
19-12760232-G-A
gnomAD v3:
19-12649418-G-A
gnomAD v4:
19-12649418-G-A
COSMIC:
COSM6282327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12649418G>A , CM000681.2:g.12649418G>A | GRCh38 |
| NC_000019.9:g.12760232G>A , CM000681.1:g.12760232G>A | GRCh37 |
| NC_000019.8:g.12621232G>A | NCBI36 |
| NG_008318.1:g.22360C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.2278C>T MANE Select | ENSP00000395473.2:p.Arg760Ter | |
| ENST00000221363.8:c.2275C>T | ENSP00000221363.4:p.Arg759Ter | |
| ENST00000456935.6:c.2278C>T | ENSP00000395473.2:p.Arg760Ter | |
| ENST00000466794.5:n.2868C>T | ||
| NM_000528.3:c.2278C>T | NP_000519.2:p.Arg760Ter | |
| NM_001173498.1:c.2275C>T | NP_001166969.1:p.Arg759Ter | |
| XM_005259913.1:c.2281C>T | XP_005259970.1:p.Arg761Ter | |
| XM_011528017.1:c.1177C>T | XP_011526319.1:p.Arg393Ter | |
| XM_005259913.2:c.2281C>T | XP_005259970.1:p.Arg761Ter | |
| XM_024451518.1:c.1177C>T | XP_024307286.1:p.Arg393Ter | |
| NM_000528.4:c.2278C>T MANE Select | NP_000519.2:p.Arg760Ter | |
| NM_001173498.2:c.2275C>T | NP_001166969.1:p.Arg759Ter |