Linked Data
ClinVar Variation Id:
196233
dbSNP Id:
rs147108245
ExAC:
X:148584864 C / T
gnomAD v2:
X-148584864-C-T
gnomAD v3:
X-149503334-C-T
gnomAD v4:
X-149503334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149503334C>T , CM000685.2:g.149503334C>T | GRCh38 |
| NC_000023.10:g.148584864C>T , CM000685.1:g.148584864C>T | GRCh37 |
| NC_000023.9:g.148392769C>T | NCBI36 |
| NG_011900.3:g.7001G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.396G>A MANE Select | ENSP00000339801.6:p.Ser132= | |
| ENST00000651111.1:c.-215-2297G>A | ENSP00000498395.1:n.-215-2297G>A | |
| ENST00000340855.10:c.396G>A | ENSP00000339801.6:p.Ser132= | |
| ENST00000370441.8:c.396G>A | ENSP00000359470.4:p.Ser132= | |
| ENST00000422081.6:c.-215-2297G>A | ENSP00000477056.1:n.-215-2297G>A | |
| ENST00000427113.2:n.770-1111G>A | ||
| ENST00000428056.6:c.396G>A | ENSP00000390241.2:p.Ser132= | |
| ENST00000441880.1:n.114-16236G>A | ||
| ENST00000464251.5:c.219G>A | ENSP00000428980.1:p.Ser73= | |
| ENST00000466323.5:c.396G>A | ENSP00000418264.1:p.Ser132= | |
| ENST00000490775.5:n.55G>A | ||
| ENST00000523759.5:n.533-2297G>A | ||
| NM_000202.6:c.396G>A | NP_000193.1:p.Ser132= | |
| NM_001166550.2:c.126G>A | NP_001160022.1:p.Ser42= | |
| NM_006123.4:c.396G>A | NP_006114.1:p.Ser132= | |
| NR_104128.1:n.613G>A | ||
| NM_000202.7:c.396G>A | NP_000193.1:p.Ser132= | |
| NM_001166550.3:c.126G>A | NP_001160022.1:p.Ser42= | |
| NM_000202.8:c.396G>A MANE Select | NP_000193.1:p.Ser132= | |
| NM_001166550.4:c.126G>A | NP_001160022.1:p.Ser42= | |
| NM_006123.5:c.396G>A | NP_006114.1:p.Ser132= | |
| NR_104128.2:n.565G>A |