Linked Data
ClinVar Variation Id:
195036
dbSNP Id:
rs144081417
ExAC:
X:148585823 T / C
gnomAD v2:
X-148585823-T-C
gnomAD v3:
X-149504293-T-C
gnomAD v4:
X-149504293-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149504293T>C , CM000685.2:g.149504293T>C | GRCh38 |
| NC_000023.10:g.148585823T>C , CM000685.1:g.148585823T>C | GRCh37 |
| NC_000023.9:g.148393727T>C | NCBI36 |
| NG_011900.3:g.6042A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.104A>G MANE Select | ENSP00000339801.6:p.Asp35Gly | |
| ENST00000651111.1:c.-215-3256A>G | ENSP00000498395.1:n.-215-3256A>G | |
| ENST00000340855.10:c.104A>G | ENSP00000339801.6:p.Asp35Gly | |
| ENST00000370441.8:c.104A>G | ENSP00000359470.4:p.Asp35Gly | |
| ENST00000422081.6:c.-215-3256A>G | ENSP00000477056.1:n.-215-3256A>G | |
| ENST00000427113.2:n.770-2070A>G | ||
| ENST00000428056.6:c.104A>G | ENSP00000390241.2:p.Asp35Gly | |
| ENST00000441880.1:n.114-17195A>G | ||
| ENST00000466323.5:c.104A>G | ENSP00000418264.1:p.Asp35Gly | |
| ENST00000521702.1:c.104A>G | ENSP00000429745.1:p.Asp35Gly | |
| ENST00000523759.5:n.533-3256A>G | ||
| NM_000202.6:c.104A>G | NP_000193.1:p.Asp35Gly | |
| NM_001166550.2:c.-123A>G | NP_001160022.1:n.-123A>G | |
| NM_006123.4:c.104A>G | NP_006114.1:p.Asp35Gly | |
| NR_104128.1:n.321A>G | ||
| NM_000202.7:c.104A>G | NP_000193.1:p.Asp35Gly | |
| NM_001166550.3:c.-123A>G | NP_001160022.1:n.-123A>G | |
| NM_000202.8:c.104A>G MANE Select | NP_000193.1:p.Asp35Gly | |
| NM_001166550.4:c.-123A>G | NP_001160022.1:n.-123A>G | |
| NM_006123.5:c.104A>G | NP_006114.1:p.Asp35Gly | |
| NR_104128.2:n.273A>G |