Linked Data
dbSNP Id:
rs1167215957
gnomAD v2:
X-49073004-C-A
gnomAD v3:
X-49216544-C-A
gnomAD v4:
X-49216544-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49216544C>A , CM000685.2:g.49216544C>A | GRCh38 |
| NC_000023.10:g.49073004C>A , CM000685.1:g.49073004C>A | GRCh37 |
| NC_000023.9:g.48959948C>A | NCBI36 |
| NG_009095.2:g.21823G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3090-16G>T MANE Select | ENSP00000321618.6:n.3090-16G>T | |
| ENST00000323022.9:c.3090-16G>T | ENSP00000321618.5:n.3090-16G>T | |
| ENST00000376251.5:c.2928-16G>T | ENSP00000365427.1:n.2928-16G>T | |
| ENST00000376265.2:c.3123-16G>T | ENSP00000365441.2:n.3123-16G>T | |
| NM_001256789.2:c.3090-16G>T | NP_001243718.1:n.3090-16G>T | |
| NM_001256790.2:c.2928-16G>T | NP_001243719.1:n.2928-16G>T | |
| NM_005183.3:c.3123-16G>T | NP_005174.2:n.3123-16G>T | |
| XM_011543983.1:c.2928-16G>T | XP_011542285.1:n.2928-16G>T | |
| XM_011543983.2:c.2928-16G>T | XP_011542285.1:n.2928-16G>T | |
| XM_017029836.1:c.357-16G>T | XP_016885325.1:n.357-16G>T | |
| NM_001256789.3:c.3090-16G>T MANE Select | NP_001243718.1:n.3090-16G>T | |
| NM_001256790.3:c.2928-16G>T | NP_001243719.1:n.2928-16G>T | |
| NM_005183.4:c.3123-16G>T | NP_005174.2:n.3123-16G>T |