Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475356C>T , CM000673.2:g.113475356C>T | GRCh38 |
| NC_000011.9:g.113346078C>T , CM000673.1:g.113346078C>T | GRCh37 |
| NC_000011.8:g.112851288C>T | NCBI36 |
| NG_008841.1:g.4924G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-312G>A MANE Select | ENSP00000354859.3:n.-312G>A | |
| ENST00000362072.7:c.-312G>A | ENSP00000354859.3:n.-312G>A | |
| ENST00000540600.5:n.34+302G>A | ||
| NM_000795.4:c.-312G>A MANE Select | NP_000786.1:n.-312G>A | |
| NM_016574.4:c.-312G>A | NP_057658.2:n.-312G>A |