Linked Data
dbSNP Id:
rs756147250
ExAC:
X:38262942 C / G
gnomAD v2:
X-38262942-C-G
gnomAD v4:
X-38403689-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38403689C>G , CM000685.2:g.38403689C>G | GRCh38 |
| NC_000023.10:g.38262942C>G , CM000685.1:g.38262942C>G | GRCh37 |
| NC_000023.9:g.38147886C>G | NCBI36 |
| NG_008471.1:g.56207C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.612C>G MANE Select | ENSP00000039007.4:p.Ile204Met | |
| ENST00000643344.1:c.*362C>G | ENSP00000496606.1:n.*362C>G | |
| ENST00000039007.4:c.612C>G | ENSP00000039007.4:p.Ile204Met | |
| ENST00000465127.1:c.172-262432C>G | ENSP00000417050.1:n.172-262432C>G | |
| NM_000531.5:c.612C>G | NP_000522.3:p.Ile204Met | |
| XM_017029556.1:c.612C>G | XP_016885045.1:p.Ile204Met | |
| NM_000531.6:c.612C>G MANE Select | NP_000522.3:p.Ile204Met |