Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438204A>G , CM000682.2:g.35438204A>G | GRCh38 |
| NC_000020.10:g.34025984A>G , CM000682.1:g.34025984A>G | GRCh37 |
| NC_000020.9:g.33489398A>G | NCBI36 |
| NG_008076.2:g.5016T>C | |
| NG_008076.3:g.21543T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374369.8:c.-276T>C MANE Select | ENSP00000363489.3:n.-276T>C | |
| ENST00000374369.7:c.-276T>C | ENSP00000363489.3:n.-276T>C | |
| ENST00000374372.1:c.-241-35T>C | ENSP00000363492.1:n.-241-35T>C | |
| XM_011529075.1:c.-241-35T>C | XP_011527377.1:n.-241-35T>C | |
| XM_011529076.1:c.-241-35T>C | XP_011527378.1:n.-241-35T>C | |
| NM_001319138.1:c.-241-35T>C | NP_001306067.1:n.-241-35T>C | |
| NM_000557.5:c.-276T>C MANE Select | NP_000548.2:n.-276T>C | |
| NM_001319138.2:c.-241-35T>C | NP_001306067.1:n.-241-35T>C |