Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10310306G>C , CM000681.2:g.10310306G>C | GRCh38 |
| NC_000019.9:g.10420982G>C , CM000681.1:g.10420982G>C | GRCh37 |
| NC_000019.8:g.10281982G>C | NCBI36 |
| NG_034259.1:g.10710C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001397406.1:c.*180C>G MANE Select | NP_001384335.1:n.*180C>G |
| ENST00000393708.3:c.*180C>G MANE Select | ENSP00000377311.4:n.*180C>G |
| NM_001031734.3:c.*180C>G | NP_001026904.2:n.*180C>G |
| NM_001031734.4:c.*180C>G | NP_001026904.2:n.*180C>G |
| ENST00000452032.6:c.*245+21C>G | ENSP00000408510.2:n.*245+21C>G |
| ENST00000492239.5:c.*180C>G | ENSP00000488228.1:n.*180C>G |
| ENST00000493771.2:n.479+117C>G | |
| ENST00000706663.1:c.*60C>G | ENSP00000516489.1:n.*60C>G |