Linked Data
ClinVar Variation Id:
1373915
ClinVar RCV Id:
RCV001877555
dbSNP Id:
rs782543340
ExAC:
X:49074383 C / T
gnomAD v2:
X-49074383-C-T
gnomAD v3:
X-49217924-C-T
gnomAD v4:
X-49217924-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217924C>T , CM000685.2:g.49217924C>T | GRCh38 |
| NC_000023.10:g.49074383C>T , CM000685.1:g.49074383C>T | GRCh37 |
| NC_000023.9:g.48961327C>T | NCBI36 |
| NG_009095.2:g.20443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3010G>A MANE Select | ENSP00000321618.6:p.Ala1004Thr | |
| ENST00000323022.9:c.3010G>A | ENSP00000321618.5:p.Ala1004Thr | |
| ENST00000376251.5:c.2848G>A | ENSP00000365427.1:p.Ala950Thr | |
| ENST00000376265.2:c.3043G>A | ENSP00000365441.2:p.Ala1015Thr | |
| NM_001256789.2:c.3010G>A | NP_001243718.1:p.Ala1004Thr | |
| NM_001256790.2:c.2848G>A | NP_001243719.1:p.Ala950Thr | |
| NM_005183.3:c.3043G>A | NP_005174.2:p.Ala1015Thr | |
| XM_011543983.1:c.2848G>A | XP_011542285.1:p.Ala950Thr | |
| XM_011543983.2:c.2848G>A | XP_011542285.1:p.Ala950Thr | |
| XM_017029836.1:c.277G>A | XP_016885325.1:p.Ala93Thr | |
| NM_001256789.3:c.3010G>A MANE Select | NP_001243718.1:p.Ala1004Thr | |
| NM_001256790.3:c.2848G>A | NP_001243719.1:p.Ala950Thr | |
| NM_005183.4:c.3043G>A | NP_005174.2:p.Ala1015Thr |