Linked Data
dbSNP Id:
rs778656274
ExAC:
10:96534895 G / A
gnomAD v2:
10-96534895-G-A
gnomAD v3:
10-94775138-G-A
gnomAD v4:
10-94775138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775138G>A , CM000672.2:g.94775138G>A | GRCh38 |
| NC_000010.10:g.96534895G>A , CM000672.1:g.96534895G>A | GRCh37 |
| NC_000010.9:g.96524885G>A | NCBI36 |
| NG_008384.2:g.17433G>A | |
| NG_008384.3:g.17458G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.249G>A MANE Select | ENSP00000360372.3:p.Val83= | |
| ENST00000645461.1:n.1302G>A | ||
| ENST00000371321.7:c.249G>A | ENSP00000360372.3:p.Val83= | |
| ENST00000464755.1:c.1012G>A | ENSP00000483243.1:n.1012G>A | |
| ENST00000480405.2:c.249G>A | ENSP00000483847.1:p.Val83= | |
| NM_000769.2:c.249G>A | NP_000760.1:p.Val83= | |
| NM_000769.4:c.249G>A MANE Select | NP_000760.1:p.Val83= |