Linked Data
dbSNP Id:
rs147161729
ExAC:
6:28227993 G / A
gnomAD v2:
6-28227993-G-A
gnomAD v3:
6-28260215-G-A
gnomAD v4:
6-28260215-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28260215G>A , CM000668.2:g.28260215G>A | GRCh38 |
| NC_000006.11:g.28227993G>A , CM000668.1:g.28227993G>A | GRCh37 |
| NC_000006.10:g.28335972G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343684.4:c.844G>A MANE Select | ENSP00000345716.3:p.Ala282Thr | |
| ENST00000343684.3:c.844G>A | ENSP00000345716.3:p.Ala282Thr | |
| NM_001007531.2:c.844G>A | NP_001007532.1:p.Ala282Thr | |
| NM_001007531.3:c.844G>A MANE Select | NP_001007532.1:p.Ala282Thr |