Linked Data
ClinVar Variation Id:
791680
dbSNP Id:
rs138687038
ExAC:
X:148584924 G / A
gnomAD v2:
X-148584924-G-A
gnomAD v3:
X-149503394-G-A
gnomAD v4:
X-149503394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149503394G>A , CM000685.2:g.149503394G>A | GRCh38 |
| NC_000023.10:g.148584924G>A , CM000685.1:g.148584924G>A | GRCh37 |
| NC_000023.9:g.148392829G>A | NCBI36 |
| NG_011900.3:g.6941C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.336C>T MANE Select | ENSP00000339801.6:p.His112= | |
| ENST00000651111.1:c.-215-2357C>T | ENSP00000498395.1:n.-215-2357C>T | |
| ENST00000340855.10:c.336C>T | ENSP00000339801.6:p.His112= | |
| ENST00000370441.8:c.336C>T | ENSP00000359470.4:p.His112= | |
| ENST00000422081.6:c.-215-2357C>T | ENSP00000477056.1:n.-215-2357C>T | |
| ENST00000427113.2:n.770-1171C>T | ||
| ENST00000428056.6:c.336C>T | ENSP00000390241.2:p.His112= | |
| ENST00000441880.1:n.114-16296C>T | ||
| ENST00000464251.5:c.159C>T | ENSP00000428980.1:p.His53= | |
| ENST00000466323.5:c.336C>T | ENSP00000418264.1:p.His112= | |
| ENST00000523759.5:n.533-2357C>T | ||
| NM_000202.6:c.336C>T | NP_000193.1:p.His112= | |
| NM_001166550.2:c.66C>T | NP_001160022.1:p.His22= | |
| NM_006123.4:c.336C>T | NP_006114.1:p.His112= | |
| NR_104128.1:n.553C>T | ||
| NM_000202.7:c.336C>T | NP_000193.1:p.His112= | |
| NM_001166550.3:c.66C>T | NP_001160022.1:p.His22= | |
| NM_000202.8:c.336C>T MANE Select | NP_000193.1:p.His112= | |
| NM_001166550.4:c.66C>T | NP_001160022.1:p.His22= | |
| NM_006123.5:c.336C>T | NP_006114.1:p.His112= | |
| NR_104128.2:n.505C>T |