Linked Data
dbSNP Id:
rs765897554
ExAC:
10:115805003 C / T
gnomAD v2:
10-115805003-C-T
gnomAD v4:
10-114045244-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045244C>T , CM000672.2:g.114045244C>T | GRCh38 |
| NC_000010.10:g.115805003C>T , CM000672.1:g.115805003C>T | GRCh37 |
| NC_000010.9:g.115794993C>T | NCBI36 |
| NG_012187.1:g.6198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1112C>T MANE Select | ENSP00000358301.2:p.Ala371Val | |
| ENST00000369295.3:c.1112C>T | ENSP00000358301.2:p.Ala371Val | |
| NM_000684.2:c.1112C>T | NP_000675.1:p.Ala371Val | |
| NM_000684.3:c.1112C>T MANE Select | NP_000675.1:p.Ala371Val |