Linked Data
gnomAD v3:
12-107001325-T-G
gnomAD v4:
12-107001325-T-G
MyVariant Identifiers:
chr12:g.107395103T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001325T>G , CM000674.2:g.107001325T>G | GRCh38 |
| NC_000012.11:g.107395103T>G , CM000674.1:g.107395103T>G | GRCh37 |
| NC_000012.10:g.105919233T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.639A>C MANE Select | ENSP00000008527.5:p.Gly213= | |
| ENST00000008527.9:c.639A>C | ENSP00000008527.5:p.Gly213= | |
| ENST00000546722.1:n.132A>C | ||
| ENST00000552790.5:n.1198A>C | ||
| NM_004075.4:c.639A>C | NP_004066.1:p.Gly213= | |
| XM_011537939.1:c.555A>C | XP_011536241.1:p.Gly185= | |
| XM_017018832.2:c.555A>C | XP_016874321.1:p.Gly185= | |
| XM_024448844.1:c.639A>C | XP_024304612.1:p.Gly213= | |
| XM_024448845.1:c.555A>C | XP_024304613.1:p.Gly185= | |
| NM_004075.5:c.639A>C MANE Select | NP_004066.1:p.Gly213= |