Linked Data
ClinVar Variation Id:
1176050
ClinVar RCV Id:
RCV001531429
dbSNP Id:
rs758479240
ExAC:
17:27861215 C / T
gnomAD v2:
17-27861215-C-T
gnomAD v4:
17-29534197-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29534197C>T , CM000679.2:g.29534197C>T | GRCh38 |
| NC_000017.10:g.27861215C>T , CM000679.1:g.27861215C>T | GRCh37 |
| NC_000017.9:g.24885341C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2441C>T MANE Select | ENSP00000261716.3:p.Ala814Val | |
| ENST00000261716.7:c.2441C>T | ENSP00000261716.3:p.Ala814Val | |
| ENST00000536202.1:c.1997C>T | ENSP00000438819.1:p.Ala666Val | |
| NM_020791.2:c.2441C>T | NP_065842.1:p.Ala814Val | |
| NM_025142.1:c.1997C>T | NP_079418.1:p.Ala666Val | |
| XM_011525060.1:c.2441C>T | XP_011523362.1:p.Ala814Val | |
| XM_011525060.2:c.2441C>T | XP_011523362.1:p.Ala814Val | |
| NM_020791.4:c.2441C>T MANE Select | NP_065842.1:p.Ala814Val |