Linked Data
ClinVar Variation Id:
1907728
ClinVar RCV Id:
RCV002596466
dbSNP Id:
rs369354206
ExAC:
X:49072919 G / T
gnomAD v2:
X-49072919-G-T
gnomAD v3:
X-49216459-G-T
gnomAD v4:
X-49216459-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49216459G>T , CM000685.2:g.49216459G>T | GRCh38 |
| NC_000023.10:g.49072919G>T , CM000685.1:g.49072919G>T | GRCh37 |
| NC_000023.9:g.48959863G>T | NCBI36 |
| NG_009095.2:g.21908C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3159C>A MANE Select | ENSP00000321618.6:p.Asn1053Lys | |
| ENST00000323022.9:c.3159C>A | ENSP00000321618.5:p.Asn1053Lys | |
| ENST00000376251.5:c.2997C>A | ENSP00000365427.1:p.Asn999Lys | |
| ENST00000376265.2:c.3192C>A | ENSP00000365441.2:p.Asn1064Lys | |
| NM_001256789.2:c.3159C>A | NP_001243718.1:p.Asn1053Lys | |
| NM_001256790.2:c.2997C>A | NP_001243719.1:p.Asn999Lys | |
| NM_005183.3:c.3192C>A | NP_005174.2:p.Asn1064Lys | |
| XM_011543983.1:c.2997C>A | XP_011542285.1:p.Asn999Lys | |
| XM_011543983.2:c.2997C>A | XP_011542285.1:p.Asn999Lys | |
| XM_017029836.1:c.426C>A | XP_016885325.1:p.Asn142Lys | |
| NM_001256789.3:c.3159C>A MANE Select | NP_001243718.1:p.Asn1053Lys | |
| NM_001256790.3:c.2997C>A | NP_001243719.1:p.Asn999Lys | |
| NM_005183.4:c.3192C>A | NP_005174.2:p.Asn1064Lys |