Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100045640C>A , CM000672.2:g.100045640C>A | GRCh38 |
| NC_000010.10:g.101805397C>A , CM000672.1:g.101805397C>A | GRCh37 |
| NC_000010.9:g.101795387C>A | NCBI36 |
| NG_012060.1:g.41246G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370418.8:c.1231-3067G>T MANE Select | ENSP00000359446.3:n.1231-3067G>T | |
| ENST00000370418.7:c.1231-3067G>T | ENSP00000359446.3:n.1231-3067G>T | |
| NM_001308.2:c.1231-3067G>T | NP_001299.1:n.1231-3067G>T | |
| XM_011539299.1:c.1273-3067G>T | XP_011537601.1:n.1273-3067G>T | |
| NM_001308.3:c.1231-3067G>T MANE Select | NP_001299.1:n.1231-3067G>T |