Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595534C= , CM000681.2:g.3595534C= | GRCh38 |
| NC_000019.9:g.3595532C= , CM000681.1:g.3595532C= | GRCh37 |
| NC_000019.8:g.3546532C= | NCBI36 |
| NG_013363.1:g.16300G= , LRG_578:g.16300G= | |
| NG_031943.1:g.14964C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.*154G= MANE Select | ENSP00000364336.4:n.*154G= | |
| ENST00000375190.8:c.*154G= | ENSP00000364336.3:n.*154G= | |
| ENST00000411851.3:c.983+203G= | ENSP00000393333.2:n.983+203G= | |
| ENST00000589966.1:c.*17G= | ENSP00000468145.1:n.*17G= | |
| NM_001060.5:c.*154G= , LRG_578t1:c.*154G= | NP_001051.1:n.*154G= | |
| NM_201636.2:c.983+203G= | NP_963998.2:n.983+203G= | |
| NM_001060.6:c.*154G= MANE Select | NP_001051.1:n.*154G= | |
| NM_201636.3:c.983+203G= | NP_963998.2:n.983+203G= |