Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64798731G>C , CM000670.2:g.64798731G>C | GRCh38 |
| NC_000008.10:g.65711288G>C , CM000670.1:g.65711288G>C | GRCh37 |
| NC_000008.9:g.65873842G>C | NCBI36 |
| NG_008338.1:g.5061C>G | |
| NG_008338.2:g.5061C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004820.5:c.-144C>G MANE Select | NP_004811.1:n.-144C>G |
| ENST00000310193.4:c.-144C>G MANE Select | ENSP00000310721.3:n.-144C>G |
| NM_001324112.1:c.-144C>G | NP_001311041.1:n.-144C>G |
| NM_001324112.2:c.-144C>G | NP_001311041.1:n.-144C>G |
| NM_004820.3:c.-144C>G | NP_004811.1:n.-144C>G |
| NM_004820.4:c.-144C>G | NP_004811.1:n.-144C>G |
| ENST00000310193.3:c.-144C>G | ENSP00000310721.3:n.-144C>G |