Linked Data
ClinVar Variation Id:
2381705
dbSNP Id:
rs140949483
ExAC:
X:115303744 T / A
gnomAD v2:
X-115303744-T-A
gnomAD v3:
X-116172491-T-A
gnomAD v4:
X-116172491-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116172491T>A , CM000685.2:g.116172491T>A | GRCh38 |
| NC_000023.10:g.115303744T>A , CM000685.1:g.115303744T>A | GRCh37 |
| NC_000023.9:g.115217772T>A | NCBI36 |
| NG_016326.1:g.6787T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.211T>A MANE Select | ENSP00000360973.4:p.Cys71Ser | |
| ENST00000680409.1:n.679T>A | ||
| ENST00000681852.1:c.211T>A | ENSP00000505750.1:p.Cys71Ser | |
| ENST00000371906.4:c.211T>A | ENSP00000360973.4:p.Cys71Ser | |
| NM_000686.4:c.211T>A | NP_000677.2:p.Cys71Ser | |
| XM_011537533.1:c.211T>A | XP_011535835.1:p.Cys71Ser | |
| NM_000686.5:c.211T>A MANE Select | NP_000677.2:p.Cys71Ser | |
| NM_001385624.1:c.211T>A | NP_001372553.1:p.Cys71Ser |