Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533988A>G , CM000681.2:g.7533988A>G | GRCh38 |
| NC_000019.9:g.7598874A>G , CM000681.1:g.7598874A>G | GRCh37 |
| NC_000019.8:g.7504874A>G | NCBI36 |
| NG_013374.1:g.4837A>G | |
| NG_015806.1:g.16379A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*193A>G MANE Select | ENSP00000264079.5:n.*193A>G | |
| ENST00000264079.10:c.*193A>G | ENSP00000264079.5:n.*193A>G | |
| ENST00000394321.9:n.2251A>G | ||
| ENST00000599334.1:c.664A>G | ||
| ENST00000601870.1:c.169+120A>G | ||
| ENST00000602227.1:n.490A>G | ||
| NM_020533.2:c.*193A>G | NP_065394.1:n.*193A>G | |
| NM_020533.3:c.*193A>G MANE Select | NP_065394.1:n.*193A>G |