Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145619405C>T , CM000666.2:g.145619405C>T | GRCh38 |
| NC_000004.11:g.146540557C>T , CM000666.1:g.146540557C>T | GRCh37 |
| NC_000004.10:g.146760007C>T | NCBI36 |
| NG_007536.1:g.5108C>T | |
| NG_007536.2:g.25364C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649156.2:c.-68C>T MANE Select | ENSP00000497008.1:n.-68C>T | |
| ENST00000649173.1:c.-65-19670C>T | ENSP00000497871.1:n.-65-19670C>T | |
| ENST00000649704.1:c.-65-19670C>T | ENSP00000497680.1:n.-65-19670C>T | |
| ENST00000679563.1:c.-65-19670C>T | ENSP00000506503.1:n.-65-19670C>T | |
| ENST00000281317.9:c.-68C>T | ENSP00000281317.5:n.-68C>T | |
| ENST00000506919.1:n.421C>T | ||
| NM_172250.2:c.-68C>T | NP_758454.1:n.-68C>T | |
| NM_172250.3:c.-68C>T MANE Select | NP_758454.1:n.-68C>T | |
| NM_001375644.1:c.-310C>T | NP_001362573.1:n.-310C>T |