Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044881C= , CM000663.2:g.17044881C= | GRCh38 |
| NC_000001.10:g.17371376C= , CM000663.1:g.17371376C= | GRCh37 |
| NC_000001.9:g.17243963C= | NCBI36 |
| NG_012340.1:g.14290G= , LRG_316:g.14290G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-92G= | ENSP00000481376.2:n.-92G= | |
| ENST00000491274.6:c.38G= | ENSP00000480482.2:p.Arg13= | |
| ENST00000375499.8:c.80G= MANE Select | ENSP00000364649.3:p.Arg27= | |
| ENST00000375499.7:c.80G= | ENSP00000364649.3:p.Arg27= | |
| ENST00000463045.2:c.-92G= | ENSP00000481376.1:n.-92G= | |
| ENST00000466613.2:n.92G= | ||
| ENST00000485515.5:n.68G= | ||
| ENST00000491274.5:c.38G= | ENSP00000480482.1:p.Arg13= | |
| NM_003000.2:c.80G= , LRG_316t1:c.80G= | NP_002991.2:p.Arg27= | |
| NM_003000.3:c.80G= MANE Select | NP_002991.2:p.Arg27= |