Linked Data
ClinVar Variation Id:
4787
dbSNP Id:
rs104894714
ExAC:
19:40901402 G / A
gnomAD v2:
19-40901402-G-A
gnomAD v4:
19-40395495-G-A
PubMed:
PMID:11133365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40395495G>A , CM000681.2:g.40395495G>A | GRCh38 |
| NC_000019.9:g.40901402G>A , CM000681.1:g.40901402G>A | GRCh37 |
| NC_000019.8:g.45593242G>A | NCBI36 |
| NG_007979.1:g.22870C>T , LRG_265:g.22870C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324001.8:c.2857C>T MANE Select | ENSP00000326018.6:p.Arg953Ter | |
| ENST00000673881.1:c.2440C>T | ENSP00000501070.1:p.Arg814Ter | |
| ENST00000674005.2:c.3142C>T | ENSP00000501261.1:p.Arg1048Ter | |
| ENST00000674773.1:c.2440C>T | ENSP00000502579.1:p.Arg814Ter | |
| ENST00000675517.1:c.2732C>T | ||
| ENST00000676076.1:c.2718C>T | ||
| ENST00000676260.1:c.2819C>T | ||
| ENST00000676316.1:c.2744C>T | ||
| ENST00000291825.11:c.*3062C>T | ENSP00000291825.6:n.*3062C>T | |
| ENST00000324001.7:c.2857C>T | ENSP00000326018.6:p.Arg953Ter | |
| NM_020956.2:c.*3062C>T , LRG_265t1:c.*3062C>T | NP_066007.1:n.*3062C>T | |
| NM_181882.2:c.2857C>T , LRG_265t2:c.2857C>T | NP_870998.2:p.Arg953Ter | |
| XM_011527171.1:c.2857C>T | XP_011525473.1:p.Arg953Ter | |
| XM_011527171.2:c.2857C>T | XP_011525473.1:p.Arg953Ter | |
| XM_017027046.1:c.2755C>T | XP_016882535.1:p.Arg919Ter | |
| XM_017027047.1:c.2755C>T | XP_016882536.1:p.Arg919Ter | |
| NM_181882.3:c.2857C>T MANE Select | NP_870998.2:p.Arg953Ter |