Linked Data
dbSNP Id:
rs756570257
ExAC:
12:107395134 T / A
gnomAD v2:
12-107395134-T-A
gnomAD v4:
12-107001356-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001356T>A , CM000674.2:g.107001356T>A | GRCh38 |
| NC_000012.11:g.107395134T>A , CM000674.1:g.107395134T>A | GRCh37 |
| NC_000012.10:g.105919264T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.608A>T MANE Select | ENSP00000008527.5:p.Asp203Val | |
| ENST00000008527.9:c.608A>T | ENSP00000008527.5:p.Asp203Val | |
| ENST00000546722.1:n.101A>T | ||
| ENST00000552790.5:n.1167A>T | ||
| NM_004075.4:c.608A>T | NP_004066.1:p.Asp203Val | |
| XM_011537939.1:c.524A>T | XP_011536241.1:p.Asp175Val | |
| XM_017018832.2:c.524A>T | XP_016874321.1:p.Asp175Val | |
| XM_024448844.1:c.608A>T | XP_024304612.1:p.Asp203Val | |
| XM_024448845.1:c.524A>T | XP_024304613.1:p.Asp175Val | |
| NM_004075.5:c.608A>T MANE Select | NP_004066.1:p.Asp203Val |