Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48921851C>T , CM000682.2:g.48921851C>T | GRCh38 |
| NC_000020.10:g.47538388C>T , CM000682.1:g.47538388C>T | GRCh37 |
| NC_000020.9:g.46971795C>T | NCBI36 |
| NG_011490.1:g.5114C>T | |
| NG_011490.2:g.5114C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006420.3:c.-39C>T MANE Select | NP_006411.2:n.-39C>T |
| ENST00000371917.5:c.-39C>T MANE Select | ENSP00000360985.4:n.-39C>T |
| NM_006420.2:c.-39C>T | NP_006411.2:n.-39C>T |
| ENST00000681399.1:c.-39C>T | ENSP00000506363.1:n.-39C>T |
| XM_005260252.2:c.-39C>T | XP_005260309.1:n.-39C>T |
| XM_005260252.3:c.-39C>T | XP_005260309.1:n.-39C>T |