Linked Data
dbSNP Id:
rs1292334136
gnomAD v2:
X-148578175-T-C
gnomAD v3:
X-149496644-T-C
gnomAD v4:
X-149496644-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149496644T>C , CM000685.2:g.149496644T>C | GRCh38 |
| NC_000023.10:g.148578175T>C , CM000685.1:g.148578175T>C | GRCh37 |
| NC_000023.9:g.148386080T>C | NCBI36 |
| NG_011900.3:g.13691A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.709-128A>G MANE Select | ENSP00000339801.6:n.709-128A>G | |
| ENST00000651111.1:c.76-128A>G | ENSP00000498395.1:n.76-128A>G | |
| ENST00000340855.10:c.709-128A>G | ENSP00000339801.6:n.709-128A>G | |
| ENST00000370441.8:c.709-128A>G | ENSP00000359470.4:n.709-128A>G | |
| ENST00000422081.6:c.76-128A>G | ENSP00000477056.1:n.76-128A>G | |
| ENST00000441880.1:n.114-9546A>G | ||
| ENST00000464251.5:c.635-128A>G | ENSP00000428980.1:n.635-128A>G | |
| ENST00000466019.1:n.161-128A>G | ||
| ENST00000466323.5:c.709-128A>G | ENSP00000418264.1:n.709-128A>G | |
| ENST00000490775.5:n.494-128A>G | ||
| NM_000202.6:c.709-128A>G | NP_000193.1:n.709-128A>G | |
| NM_001166550.2:c.439-128A>G | NP_001160022.1:n.439-128A>G | |
| NM_006123.4:c.709-128A>G | NP_006114.1:n.709-128A>G | |
| NR_104128.1:n.926-128A>G | ||
| NM_000202.7:c.709-128A>G | NP_000193.1:n.709-128A>G | |
| NM_001166550.3:c.439-128A>G | NP_001160022.1:n.439-128A>G | |
| NM_000202.8:c.709-128A>G MANE Select | NP_000193.1:n.709-128A>G | |
| NM_001166550.4:c.439-128A>G | NP_001160022.1:n.439-128A>G | |
| NM_006123.5:c.709-128A>G | NP_006114.1:n.709-128A>G | |
| NR_104128.2:n.878-128A>G |