Linked Data
dbSNP Id:
rs1356329333
gnomAD v2:
X-153453329-C-A
gnomAD v3:
X-154187840-C-A
gnomAD v4:
X-154187840-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154187840C>A , CM000685.2:g.154187840C>A | GRCh38 |
| NC_000023.10:g.153453329C>A , CM000685.1:g.153453329C>A | GRCh37 |
| NG_011606.1:g.10245C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595290.6:c.183C>A MANE Select | ENSP00000472316.1:p.Ile61= | |
| ENST00000595290.5:c.183C>A | ENSP00000472316.1:p.Ile61= | |
| ENST00000595330.1:n.193C>A | ||
| NM_000513.2:c.183C>A MANE Select | NP_000504.1:p.Ile61= |