Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814155C= , CM000671.2:g.129814155C= | GRCh38 |
| NC_000009.11:g.132576434C= , CM000671.1:g.132576434C= | GRCh37 |
| NC_000009.10:g.131616255C= | NCBI36 |
| NG_008049.1:g.15008G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.816G= MANE Select | ENSP00000345719.4:p.Leu272= | |
| ENST00000651202.1:c.*84G= | ENSP00000498222.1:n.*84G= | |
| ENST00000351698.4:c.816G= | ENSP00000345719.4:p.Leu272= | |
| ENST00000474192.1:n.400G= | ||
| NM_000113.2:c.816G= | NP_000104.1:p.Leu272= | |
| XR_929731.1:n.1143G= | ||
| XR_929731.3:n.1011G= | ||
| NM_000113.3:c.816G= MANE Select | NP_000104.1:p.Leu272= |