Linked Data
dbSNP Id:
rs751517701
ExAC:
X:38535000 C / A
gnomAD v2:
X-38535000-C-A
gnomAD v3:
X-38675746-C-A
gnomAD v4:
X-38675746-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675746C>A , CM000685.2:g.38675746C>A | GRCh38 |
| NC_000023.10:g.38535000C>A , CM000685.1:g.38535000C>A | GRCh37 |
| NC_000023.9:g.38419944C>A | NCBI36 |
| NG_009160.1:g.119270C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.483C>A MANE Select | ENSP00000367743.2:p.Thr161= | |
| ENST00000286824.6:c.534C>A | ENSP00000286824.6:p.Thr178= | |
| ENST00000378482.6:c.483C>A | ENSP00000367743.2:p.Thr161= | |
| ENST00000419600.3:n.427C>A | ||
| ENST00000465127.1:c.573C>A | ENSP00000417050.1:p.Thr191= | |
| ENST00000471410.5:c.*509C>A | ENSP00000419290.1:n.*509C>A | |
| ENST00000475216.5:c.*476C>A | ENSP00000418586.1:n.*476C>A | |
| ENST00000488893.5:n.666C>A | ||
| NM_004615.3:c.483C>A | NP_004606.2:p.Thr161= | |
| NM_004615.4:c.483C>A MANE Select | NP_004606.2:p.Thr161= |