Linked Data
dbSNP Id:
rs551760602
ExAC:
6:108882748 G / A
gnomAD v2:
6-108882748-G-A
gnomAD v3:
6-108561545-G-A
gnomAD v4:
6-108561545-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108561545G>A , CM000668.2:g.108561545G>A | GRCh38 |
| NC_000006.11:g.108882748G>A , CM000668.1:g.108882748G>A | GRCh37 |
| NC_000006.10:g.108989441G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.337G>A MANE Select | ENSP00000385824.1:p.Ala113Thr | |
| ENST00000343882.10:c.337G>A | ENSP00000339527.6:p.Ala113Thr | |
| ENST00000406360.1:c.337G>A | ENSP00000385824.1:p.Ala113Thr | |
| NM_001455.3:c.337G>A | NP_001446.1:p.Ala113Thr | |
| NM_201559.2:c.337G>A | NP_963853.1:p.Ala113Thr | |
| NM_001455.4:c.337G>A MANE Select | NP_001446.1:p.Ala113Thr | |
| NM_201559.3:c.337G>A | NP_963853.1:p.Ala113Thr |