Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17054012G= , CM000663.2:g.17054012G= | GRCh38 |
| NC_000001.10:g.17380507G= , CM000663.1:g.17380507G= | GRCh37 |
| NC_000001.9:g.17253094G= | NCBI36 |
| NG_012340.1:g.5159C= , LRG_316:g.5159C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.8C= MANE Select | NP_002991.2:p.Ala3= |
| ENST00000375499.8:c.8C= MANE Select | ENSP00000364649.3:p.Ala3= |
| NM_003000.2:c.8C= , LRG_316t1:c.8C= | NP_002991.2:p.Ala3= |
| ENST00000375499.7:c.8C= | ENSP00000364649.3:p.Ala3= |
| ENST00000466613.2:n.20C= |