Linked Data
dbSNP Id:
rs1952306704
gnomAD v3:
12-107001289-C-T
gnomAD v4:
12-107001289-C-T
MyVariant Identifiers:
chr12:g.107395067C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001289C>T , CM000674.2:g.107001289C>T | GRCh38 |
| NC_000012.11:g.107395067C>T , CM000674.1:g.107395067C>T | GRCh37 |
| NC_000012.10:g.105919197C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.675G>A MANE Select | ENSP00000008527.5:p.Leu225= | |
| ENST00000008527.9:c.675G>A | ENSP00000008527.5:p.Leu225= | |
| ENST00000546722.1:n.168G>A | ||
| ENST00000552790.5:n.1234G>A | ||
| NM_004075.4:c.675G>A | NP_004066.1:p.Leu225= | |
| XM_011537939.1:c.591G>A | XP_011536241.1:p.Leu197= | |
| XM_017018832.2:c.591G>A | XP_016874321.1:p.Leu197= | |
| XM_024448844.1:c.675G>A | XP_024304612.1:p.Leu225= | |
| XM_024448845.1:c.591G>A | XP_024304613.1:p.Leu197= | |
| NM_004075.5:c.675G>A MANE Select | NP_004066.1:p.Leu225= |