Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533835A>G , CM000681.2:g.7533835A>G | GRCh38 |
| NC_000019.9:g.7598721A>G , CM000681.1:g.7598721A>G | GRCh37 |
| NC_000019.8:g.7504721A>G | NCBI36 |
| NG_013374.1:g.4684A>G | |
| NG_015806.1:g.16226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*40A>G MANE Select | ENSP00000264079.5:n.*40A>G | |
| ENST00000264079.10:c.*40A>G | ENSP00000264079.5:n.*40A>G | |
| ENST00000394321.9:n.2098A>G | ||
| ENST00000599334.1:c.511A>G | ||
| ENST00000601870.1:c.136A>G | ||
| ENST00000602227.1:n.337A>G | ||
| NM_020533.2:c.*40A>G | NP_065394.1:n.*40A>G | |
| NM_020533.3:c.*40A>G MANE Select | NP_065394.1:n.*40A>G |