Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814115G= , CM000671.2:g.129814115G= | GRCh38 |
| NC_000009.11:g.132576394G= , CM000671.1:g.132576394G= | GRCh37 |
| NC_000009.10:g.131616215G= | NCBI36 |
| NG_008049.1:g.15048C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.856C= MANE Select | ENSP00000345719.4:p.Gln286= | |
| ENST00000651202.1:c.*124C= | ENSP00000498222.1:n.*124C= | |
| ENST00000351698.4:c.856C= | ENSP00000345719.4:p.Gln286= | |
| ENST00000474192.1:n.440C= | ||
| NM_000113.2:c.856C= | NP_000104.1:p.Gln286= | |
| XR_929731.1:n.1183C= | ||
| XR_929731.3:n.1051C= | ||
| NM_000113.3:c.856C= MANE Select | NP_000104.1:p.Gln286= |