Linked Data
dbSNP Id:
rs782186826
ExAC:
X:49957679 C / A
gnomAD v2:
X-49957679-C-A
gnomAD v3:
X-50193028-C-A
gnomAD v4:
X-50193028-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50193028C>A , CM000685.2:g.50193028C>A | GRCh38 |
| NC_000023.10:g.49957679C>A , CM000685.1:g.49957679C>A | GRCh37 |
| NC_000023.9:g.49844419C>A | NCBI36 |
| NG_012552.1:g.12986G>T | |
| NG_012552.2:g.12986G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.1685G>T MANE Select | ENSP00000351327.2:p.Gly562Val | |
| ENST00000358526.6:c.1685G>T | ENSP00000351327.2:p.Gly562Val | |
| ENST00000376064.7:c.1658G>T | ENSP00000365232.3:p.Gly553Val | |
| ENST00000448865.5:c.542-6G>T | ENSP00000402403.1:n.542-6G>T | |
| ENST00000481402.5:n.1797G>T | ||
| NM_003886.2:c.1685G>T | NP_003877.2:p.Gly562Val | |
| NM_139289.1:c.1658G>T | NP_647450.1:p.Gly553Val | |
| NM_003886.3:c.1685G>T MANE Select | NP_003877.2:p.Gly562Val | |
| NM_139289.2:c.1658G>T | NP_647450.1:p.Gly553Val |