Linked Data
ClinVar Variation Id:
521430
dbSNP Id:
rs199974151
ExAC:
X:21863354 C / T
gnomAD v2:
X-21863354-C-T
gnomAD v3:
X-21845236-C-T
gnomAD v4:
X-21845236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845236C>T , CM000685.2:g.21845236C>T | GRCh38 |
| NC_000023.10:g.21863354C>T , CM000685.1:g.21863354C>T | GRCh37 |
| NC_000023.9:g.21773275C>T | NCBI36 |
| NG_012797.1:g.10699C>T | |
| NG_012797.2:g.10699C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.290C>T MANE Select | ENSP00000368798.5:p.Thr97Met | |
| ENST00000365779.2:c.290C>T | ENSP00000368796.1:p.Thr97Met | |
| ENST00000379484.9:c.290C>T | ENSP00000368798.5:p.Thr97Met | |
| ENST00000465888.1:n.389C>T | ||
| NM_015884.3:c.290C>T | NP_056968.1:p.Thr97Met | |
| NM_015884.4:c.290C>T MANE Select | NP_056968.1:p.Thr97Met |