Linked Data
ClinVar Variation Id:
11013
dbSNP Id:
rs72554307
gnomAD v2:
X-38226584-C-T
gnomAD v4:
X-38367331-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367331C>T , CM000685.2:g.38367331C>T | GRCh38 |
| NC_000023.10:g.38226584C>T , CM000685.1:g.38226584C>T | GRCh37 |
| NC_000023.9:g.38111528C>T | NCBI36 |
| NG_008471.1:g.19849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.118C>T MANE Select | ENSP00000039007.4:p.Arg40Cys | |
| ENST00000643344.1:c.118C>T | ENSP00000496606.1:p.Arg40Cys | |
| ENST00000039007.4:c.118C>T | ENSP00000039007.4:p.Arg40Cys | |
| ENST00000465127.1:c.172-298790C>T | ENSP00000417050.1:n.172-298790C>T | |
| ENST00000488812.1:n.210C>T | ||
| NM_000531.5:c.118C>T | NP_000522.3:p.Arg40Cys | |
| XM_017029556.1:c.118C>T | XP_016885045.1:p.Arg40Cys | |
| NM_000531.6:c.118C>T MANE Select | NP_000522.3:p.Arg40Cys |