Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30340620G>T , CM000672.2:g.30340620G>T | GRCh38 |
| NC_000010.10:g.30629549G>T , CM000672.1:g.30629549G>T | GRCh37 |
| NC_000010.9:g.30669555G>T | NCBI36 |
| NG_028096.1:g.13719C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.331-170C>A MANE Select | ENSP00000263063.3:n.331-170C>A | |
| ENST00000263063.8:c.331-170C>A | ENSP00000263063.3:n.331-170C>A | |
| ENST00000417581.1:c.136-170C>A | ENSP00000404392.1:n.136-170C>A | |
| ENST00000421701.1:c.217-170C>A | ENSP00000394118.1:n.217-170C>A | |
| ENST00000488290.5:n.2086-170C>A | ||
| NM_018109.3:c.331-170C>A | NP_060579.3:n.331-170C>A | |
| NM_018109.4:c.331-170C>A MANE Select | NP_060579.3:n.331-170C>A |