Linked Data
dbSNP Id:
rs782301050
ExAC:
X:148579729 A / C
gnomAD v2:
X-148579729-A-C
gnomAD v4:
X-149498198-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149498198A>C , CM000685.2:g.149498198A>C | GRCh38 |
| NC_000023.10:g.148579729A>C , CM000685.1:g.148579729A>C | GRCh37 |
| NC_000023.9:g.148387634A>C | NCBI36 |
| NG_011900.3:g.12137T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.617T>G MANE Select | ENSP00000339801.6:p.Ile206Arg | |
| ENST00000651111.1:c.-17T>G | ENSP00000498395.1:n.-17T>G | |
| ENST00000340855.10:c.617T>G | ENSP00000339801.6:p.Ile206Arg | |
| ENST00000370441.8:c.617T>G | ENSP00000359470.4:p.Ile206Arg | |
| ENST00000422081.6:c.-17T>G | ENSP00000477056.1:n.-17T>G | |
| ENST00000441880.1:n.114-11100T>G | ||
| ENST00000464251.5:c.543T>G | ENSP00000428980.1:n.543T>G | |
| ENST00000466019.1:n.69T>G | ||
| ENST00000466323.5:c.617T>G | ENSP00000418264.1:p.Ile206Arg | |
| ENST00000490775.5:n.402T>G | ||
| ENST00000523759.5:n.731T>G | ||
| NM_000202.6:c.617T>G | NP_000193.1:p.Ile206Arg | |
| NM_001166550.2:c.347T>G | NP_001160022.1:p.Ile116Arg | |
| NM_006123.4:c.617T>G | NP_006114.1:p.Ile206Arg | |
| NR_104128.1:n.834T>G | ||
| NM_000202.7:c.617T>G | NP_000193.1:p.Ile206Arg | |
| NM_001166550.3:c.347T>G | NP_001160022.1:p.Ile116Arg | |
| NM_000202.8:c.617T>G MANE Select | NP_000193.1:p.Ile206Arg | |
| NM_001166550.4:c.347T>G | NP_001160022.1:p.Ile116Arg | |
| NM_006123.5:c.617T>G | NP_006114.1:p.Ile206Arg | |
| NR_104128.2:n.786T>G |