Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100191105T>C , CM000663.2:g.100191105T>C | GRCh38 |
| NC_000001.10:g.100656661T>C , CM000663.1:g.100656661T>C | GRCh37 |
| NC_000001.9:g.100429249T>C | NCBI36 |
| NG_011852.2:g.63749A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001918.5:c.*5150A>G MANE Select | NP_001909.4:n.*5150A>G |
| ENST00000370132.8:c.*5150A>G MANE Select | ENSP00000359151.3:n.*5150A>G |
| NM_001399969.1:c.*5150A>G | NP_001386898.1:n.*5150A>G |
| NM_001399972.1:c.*5150A>G | NP_001386901.1:n.*5150A>G |
| NM_001918.3:c.*5150A>G | NP_001909.3:n.*5150A>G |
| NM_001918.4:c.*5150A>G | NP_001909.3:n.*5150A>G |
| NR_174363.1:n.6431A>G | |
| NR_174364.1:n.6772A>G | |
| NR_174365.1:n.6396A>G | |
| NR_174366.1:n.6698A>G |