Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122732793C>T , CM000666.2:g.122732793C>T | GRCh38 |
| NC_000004.11:g.123653948C>T , CM000666.1:g.123653948C>T | GRCh37 |
| NC_000004.10:g.123873398C>T | NCBI36 |
| NG_021203.1:g.5092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314218.8:c.-102C>T MANE Select | ENSP00000319062.3:n.-102C>T | |
| ENST00000314218.7:c.-102C>T | ENSP00000319062.3:n.-102C>T | |
| ENST00000542236.5:c.-290C>T | ENSP00000438273.1:n.-290C>T | |
| NM_001178007.1:c.-290C>T | NP_001171478.1:n.-290C>T | |
| NM_152618.2:c.-102C>T | NP_689831.2:n.-102C>T | |
| XM_011531680.1:c.-10-9090C>T | XP_011529982.1:n.-10-9090C>T | |
| XM_011531680.2:c.-10-9090C>T | XP_011529982.1:n.-10-9090C>T | |
| NM_152618.3:c.-102C>T MANE Select | NP_689831.2:n.-102C>T | |
| NM_001178007.2:c.-290C>T | NP_001171478.1:n.-290C>T |