Linked Data
ClinVar Variation Id:
2605557
ClinVar RCV Id:
RCV004348838
dbSNP Id:
rs745449271
ExAC:
19:17338753 C / T
gnomAD v2:
19-17338753-C-T
gnomAD v3:
19-17227944-C-T
gnomAD v4:
19-17227944-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17227944C>T , CM000681.2:g.17227944C>T | GRCh38 |
| NC_000019.9:g.17338753C>T , CM000681.1:g.17338753C>T | GRCh37 |
| NC_000019.8:g.17199753C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215061.9:c.557C>T MANE Select | ENSP00000215061.3:p.Ala186Val | |
| ENST00000215061.8:c.557C>T | ENSP00000215061.3:p.Ala186Val | |
| ENST00000594283.5:n.686C>T | ||
| ENST00000595769.1:n.43-312C>T | ||
| ENST00000596279.1:n.523C>T | ||
| ENST00000597836.5:c.389C>T | ENSP00000470270.1:p.Ala130Val | |
| ENST00000598068.5:c.441C>T | ||
| ENST00000598172.1:c.342C>T | ||
| ENST00000599286.1:c.158-312C>T | ENSP00000471742.1:n.158-312C>T | |
| ENST00000599588.5:n.599-312C>T | ||
| ENST00000600232.5:c.552C>T | ||
| ENST00000601529.5:c.453-312C>T | ENSP00000471201.1:n.453-312C>T | |
| NM_024578.2:c.557C>T | NP_078854.1:p.Ala186Val | |
| XM_005260079.2:c.389C>T | XP_005260136.1:p.Ala130Val | |
| XM_006722899.2:c.557C>T | XP_006722962.1:p.Ala186Val | |
| XM_006722899.4:c.557C>T | XP_006722962.1:p.Ala186Val | |
| XM_017027306.1:c.389C>T | XP_016882795.1:p.Ala130Val | |
| NM_024578.3:c.557C>T MANE Select | NP_078854.1:p.Ala186Val |