Linked Data
dbSNP Id:
rs782589846
ExAC:
X:49074253 G / T
gnomAD v2:
X-49074253-G-T
gnomAD v4:
X-49217794-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217794G>T , CM000685.2:g.49217794G>T | GRCh38 |
| NC_000023.10:g.49074253G>T , CM000685.1:g.49074253G>T | GRCh37 |
| NC_000023.9:g.48961197G>T | NCBI36 |
| NG_009095.2:g.20573C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3050C>A MANE Select | ENSP00000321618.6:p.Thr1017Asn | |
| ENST00000323022.9:c.3050C>A | ENSP00000321618.5:p.Thr1017Asn | |
| ENST00000376251.5:c.2888C>A | ENSP00000365427.1:p.Thr963Asn | |
| ENST00000376265.2:c.3083C>A | ENSP00000365441.2:p.Thr1028Asn | |
| NM_001256789.2:c.3050C>A | NP_001243718.1:p.Thr1017Asn | |
| NM_001256790.2:c.2888C>A | NP_001243719.1:p.Thr963Asn | |
| NM_005183.3:c.3083C>A | NP_005174.2:p.Thr1028Asn | |
| XM_011543983.1:c.2888C>A | XP_011542285.1:p.Thr963Asn | |
| XM_011543983.2:c.2888C>A | XP_011542285.1:p.Thr963Asn | |
| XM_017029836.1:c.317C>A | XP_016885325.1:p.Thr106Asn | |
| NM_001256789.3:c.3050C>A MANE Select | NP_001243718.1:p.Thr1017Asn | |
| NM_001256790.3:c.2888C>A | NP_001243719.1:p.Thr963Asn | |
| NM_005183.4:c.3083C>A | NP_005174.2:p.Thr1028Asn |