Linked Data
dbSNP Id:
rs781845883
ExAC:
X:154182365 G / T
gnomAD v2:
X-154182365-G-T
gnomAD v3:
X-154954090-G-T
gnomAD v4:
X-154954090-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154954090G>T , CM000685.2:g.154954090G>T | GRCh38 |
| NC_000023.10:g.154182365G>T , CM000685.1:g.154182365G>T | GRCh37 |
| NC_000023.9:g.153835559G>T | NCBI36 |
| NG_011403.1:g.73634C>A | |
| NG_011403.2:g.73634C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1753-48C>A MANE Select | ENSP00000353393.4:n.1753-48C>A | |
| ENST00000647125.1:c.*1629-48C>A | ENSP00000496062.1:n.*1629-48C>A | |
| ENST00000360256.8:c.1753-48C>A | ENSP00000353393.4:n.1753-48C>A | |
| NM_000132.3:c.1753-48C>A | NP_000123.1:n.1753-48C>A | |
| XM_011531126.1:c.1648-48C>A | XP_011529428.1:n.1648-48C>A | |
| NM_000132.4:c.1753-48C>A MANE Select | NP_000123.1:n.1753-48C>A |