Linked Data
dbSNP Id:
rs770841608
ExAC:
X:21863471 C / T
gnomAD v2:
X-21863471-C-T
gnomAD v4:
X-21845353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845353C>T , CM000685.2:g.21845353C>T | GRCh38 |
| NC_000023.10:g.21863471C>T , CM000685.1:g.21863471C>T | GRCh37 |
| NC_000023.9:g.21773392C>T | NCBI36 |
| NG_012797.1:g.10816C>T | |
| NG_012797.2:g.10816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.407C>T MANE Select | ENSP00000368798.5:p.Ser136Leu | |
| ENST00000365779.2:c.407C>T | ENSP00000368796.1:p.Ser136Leu | |
| ENST00000379484.9:c.407C>T | ENSP00000368798.5:p.Ser136Leu | |
| ENST00000465888.1:n.506C>T | ||
| NM_015884.3:c.407C>T | NP_056968.1:p.Ser136Leu | |
| NM_015884.4:c.407C>T MANE Select | NP_056968.1:p.Ser136Leu |