Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438144A>C , CM000682.2:g.35438144A>C | GRCh38 |
| NC_000020.10:g.34025924A>C , CM000682.1:g.34025924A>C | GRCh37 |
| NC_000020.9:g.33489338A>C | NCBI36 |
| NG_008076.2:g.5076T>G | |
| NG_008076.3:g.21603T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374369.8:c.-216T>G MANE Select | ENSP00000363489.3:n.-216T>G | |
| ENST00000374369.7:c.-216T>G | ENSP00000363489.3:n.-216T>G | |
| ENST00000374372.1:c.-216T>G | ENSP00000363492.1:n.-216T>G | |
| NM_000557.4:c.-216T>G | NP_000548.2:n.-216T>G | |
| XM_011529075.1:c.-216T>G | XP_011527377.1:n.-216T>G | |
| XM_011529076.1:c.-216T>G | XP_011527378.1:n.-216T>G | |
| NM_001319138.1:c.-216T>G | NP_001306067.1:n.-216T>G | |
| NM_000557.5:c.-216T>G MANE Select | NP_000548.2:n.-216T>G | |
| NM_001319138.2:c.-216T>G | NP_001306067.1:n.-216T>G |