Linked Data
dbSNP Id:
rs1180004771
gnomAD v2:
X-38535059-G-T
gnomAD v3:
X-38675805-G-T
gnomAD v4:
X-38675805-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675805G>T , CM000685.2:g.38675805G>T | GRCh38 |
| NC_000023.10:g.38535059G>T , CM000685.1:g.38535059G>T | GRCh37 |
| NC_000023.9:g.38420003G>T | NCBI36 |
| NG_009160.1:g.119329G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.542G>T MANE Select | ENSP00000367743.2:p.Cys181Phe | |
| ENST00000286824.6:c.593G>T | ENSP00000286824.6:p.Cys198Phe | |
| ENST00000378482.6:c.542G>T | ENSP00000367743.2:p.Cys181Phe | |
| ENST00000419600.3:n.486G>T | ||
| ENST00000465127.1:c.632G>T | ENSP00000417050.1:p.Cys211Phe | |
| ENST00000471410.5:c.*568G>T | ENSP00000419290.1:n.*568G>T | |
| ENST00000475216.5:c.*535G>T | ENSP00000418586.1:n.*535G>T | |
| ENST00000488893.5:n.725G>T | ||
| NM_004615.3:c.542G>T | NP_004606.2:p.Cys181Phe | |
| NM_004615.4:c.542G>T MANE Select | NP_004606.2:p.Cys181Phe |