Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68157629C>T , CM000674.2:g.68157629C>T | GRCh38 |
| NC_000012.11:g.68551409C>T , CM000674.1:g.68551409C>T | GRCh37 |
| NC_000012.10:g.66837676C>T | NCBI36 |
| NG_015840.1:g.7113G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000619.3:c.366+284G>A MANE Select | NP_000610.2:n.366+284G>A |
| ENST00000229135.4:c.366+284G>A MANE Select | ENSP00000229135.3:n.366+284G>A |
| NM_000619.2:c.366+284G>A | NP_000610.2:n.366+284G>A |
| ENST00000229135.3:c.366+284G>A | ENSP00000229135.3:n.366+284G>A |