Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533968T>G , CM000681.2:g.7533968T>G | GRCh38 |
| NC_000019.9:g.7598854T>G , CM000681.1:g.7598854T>G | GRCh37 |
| NC_000019.8:g.7504854T>G | NCBI36 |
| NG_013374.1:g.4817T>G | |
| NG_015806.1:g.16359T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*173T>G MANE Select | ENSP00000264079.5:n.*173T>G | |
| ENST00000264079.10:c.*173T>G | ENSP00000264079.5:n.*173T>G | |
| ENST00000394321.9:n.2231T>G | ||
| ENST00000599334.1:c.644T>G | ||
| ENST00000601870.1:c.169+100T>G | ||
| ENST00000602227.1:n.470T>G | ||
| NM_020533.2:c.*173T>G | NP_065394.1:n.*173T>G | |
| NM_020533.3:c.*173T>G MANE Select | NP_065394.1:n.*173T>G |