Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1409367C>T , CM000667.2:g.1409367C>T | GRCh38 |
| NC_000005.9:g.1409482C>T , CM000667.1:g.1409482C>T | GRCh37 |
| NC_000005.8:g.1462482C>T | NCBI36 |
| NG_015885.1:g.41062G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.1399-242G>A MANE Select | NP_001035.1:n.1399-242G>A |
| ENST00000270349.12:c.1399-242G>A MANE Select | ENSP00000270349.9:n.1399-242G>A |
| NM_001044.4:c.1399-242G>A | NP_001035.1:n.1399-242G>A |
| ENST00000270349.11:c.1399-242G>A | ENSP00000270349.9:n.1399-242G>A |