Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.92145814T>C , CM000674.2:g.92145814T>C | GRCh38 |
| NC_000012.11:g.92539590T>C , CM000674.1:g.92539590T>C | GRCh37 |
| NC_000012.10:g.91063721T>C | NCBI36 |
| NG_065368.1:g.5033A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001731.3:c.-279A>G MANE Select | NP_001722.1:n.-279A>G |
| ENST00000256015.5:c.-279A>G MANE Select | ENSP00000256015.3:n.-279A>G |
| NM_001731.2:c.-279A>G | NP_001722.1:n.-279A>G |
| ENST00000256015.4:c.-279A>G | ENSP00000256015.3:n.-279A>G |