Linked Data
dbSNP Id:
rs782488487
ExAC:
X:148571894 G / C
gnomAD v2:
X-148571894-G-C
gnomAD v4:
X-149490363-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490363G>C , CM000685.2:g.149490363G>C | GRCh38 |
| NC_000023.10:g.148571894G>C , CM000685.1:g.148571894G>C | GRCh37 |
| NC_000023.9:g.148379799G>C | NCBI36 |
| NG_011900.3:g.19972C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.957C>G MANE Select | ENSP00000339801.6:p.Asp319Glu | |
| ENST00000651111.1:c.324C>G | ENSP00000498395.1:p.Asp108Glu | |
| ENST00000340855.10:c.957C>G | ENSP00000339801.6:p.Asp319Glu | |
| ENST00000370441.8:c.957C>G | ENSP00000359470.4:p.Asp319Glu | |
| ENST00000422081.6:c.324C>G | ENSP00000477056.1:p.Asp108Glu | |
| ENST00000441880.1:n.114-3265C>G | ||
| ENST00000464251.5:c.883C>G | ENSP00000428980.1:n.883C>G | |
| ENST00000466323.5:c.*148C>G | ENSP00000418264.1:n.*148C>G | |
| ENST00000490775.5:n.742C>G | ||
| NM_000202.6:c.957C>G | NP_000193.1:p.Asp319Glu | |
| NM_001166550.2:c.687C>G | NP_001160022.1:p.Asp229Glu | |
| NM_006123.4:c.957C>G | NP_006114.1:p.Asp319Glu | |
| NR_104128.1:n.1304C>G | ||
| NM_000202.7:c.957C>G | NP_000193.1:p.Asp319Glu | |
| NM_001166550.3:c.687C>G | NP_001160022.1:p.Asp229Glu | |
| NM_000202.8:c.957C>G MANE Select | NP_000193.1:p.Asp319Glu | |
| NM_001166550.4:c.687C>G | NP_001160022.1:p.Asp229Glu | |
| NM_006123.5:c.957C>G | NP_006114.1:p.Asp319Glu | |
| NR_104128.2:n.1256C>G |