Linked Data
ClinVar Variation Id:
1955971
ClinVar RCV Id:
RCV002695793
dbSNP Id:
rs782693307
ExAC:
X:49074407 T / C
gnomAD v2:
X-49074407-T-C
gnomAD v3:
X-49217948-T-C
gnomAD v4:
X-49217948-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217948T>C , CM000685.2:g.49217948T>C | GRCh38 |
| NC_000023.10:g.49074407T>C , CM000685.1:g.49074407T>C | GRCh37 |
| NC_000023.9:g.48961351T>C | NCBI36 |
| NG_009095.2:g.20419A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2986A>G MANE Select | ENSP00000321618.6:p.Thr996Ala | |
| ENST00000323022.9:c.2986A>G | ENSP00000321618.5:p.Thr996Ala | |
| ENST00000376251.5:c.2824A>G | ENSP00000365427.1:p.Thr942Ala | |
| ENST00000376265.2:c.3019A>G | ENSP00000365441.2:p.Thr1007Ala | |
| NM_001256789.2:c.2986A>G | NP_001243718.1:p.Thr996Ala | |
| NM_001256790.2:c.2824A>G | NP_001243719.1:p.Thr942Ala | |
| NM_005183.3:c.3019A>G | NP_005174.2:p.Thr1007Ala | |
| XM_011543983.1:c.2824A>G | XP_011542285.1:p.Thr942Ala | |
| XM_011543983.2:c.2824A>G | XP_011542285.1:p.Thr942Ala | |
| XM_017029836.1:c.253A>G | XP_016885325.1:p.Thr85Ala | |
| NM_001256789.3:c.2986A>G MANE Select | NP_001243718.1:p.Thr996Ala | |
| NM_001256790.3:c.2824A>G | NP_001243719.1:p.Thr942Ala | |
| NM_005183.4:c.3019A>G | NP_005174.2:p.Thr1007Ala |