Linked Data
dbSNP Id:
rs782377168
ExAC:
X:148568680 C / A
gnomAD v2:
X-148568680-C-A
gnomAD v3:
X-149487149-C-A
gnomAD v4:
X-149487149-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149487149C>A , CM000685.2:g.149487149C>A | GRCh38 |
| NC_000023.10:g.148568680C>A , CM000685.1:g.148568680C>A | GRCh37 |
| NC_000023.9:g.148376585C>A | NCBI36 |
| NG_011900.3:g.23186G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1007-51G>T MANE Select | ENSP00000339801.6:n.1007-51G>T | |
| ENST00000651111.1:c.374-51G>T | ENSP00000498395.1:n.374-51G>T | |
| ENST00000340855.10:c.1007-51G>T | ENSP00000339801.6:n.1007-51G>T | |
| ENST00000370441.8:c.*139G>T | ENSP00000359470.4:n.*139G>T | |
| ENST00000422081.6:c.374-51G>T | ENSP00000477056.1:n.374-51G>T | |
| ENST00000441880.1:n.114-51G>T | ||
| ENST00000466323.5:c.*362G>T | ENSP00000418264.1:n.*362G>T | |
| NM_000202.6:c.1007-51G>T | NP_000193.1:n.1007-51G>T | |
| NM_001166550.2:c.737-51G>T | NP_001160022.1:n.737-51G>T | |
| NM_006123.4:c.*139G>T | NP_006114.1:n.*139G>T | |
| NR_104128.1:n.1518G>T | ||
| NM_000202.7:c.1007-51G>T | NP_000193.1:n.1007-51G>T | |
| NM_001166550.3:c.737-51G>T | NP_001160022.1:n.737-51G>T | |
| NM_000202.8:c.1007-51G>T MANE Select | NP_000193.1:n.1007-51G>T | |
| NM_001166550.4:c.737-51G>T | NP_001160022.1:n.737-51G>T | |
| NM_006123.5:c.*139G>T | NP_006114.1:n.*139G>T | |
| NR_104128.2:n.1470G>T |