Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92832109C>T , CM000663.2:g.92832109C>T | GRCh38 |
| NC_000001.10:g.93297666C>T , CM000663.1:g.93297666C>T | GRCh37 |
| NC_000001.9:g.93070254C>T | NCBI36 |
| NG_011779.1:g.5073C>T | |
| NG_033051.1:g.134414G>A | |
| NG_011779.2:g.5124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370321.8:c.-6C>T MANE Select | ENSP00000359345.2:n.-6C>T | |
| ENST00000645119.1:c.-6C>T | ENSP00000493811.1:n.-6C>T | |
| ENST00000645300.1:c.-86C>T | ENSP00000495589.1:n.-86C>T | |
| ENST00000646852.1:n.24C>T | ||
| ENST00000315741.5:c.-290C>T | ENSP00000359338.2:n.-290C>T | |
| ENST00000370321.7:c.-6C>T | ENSP00000359345.2:n.-6C>T | |
| ENST00000470843.5:c.-6C>T | ENSP00000473675.1:n.-6C>T | |
| NM_000969.3:c.-6C>T | NP_000960.2:n.-6C>T | |
| NM_000969.5:c.-6C>T MANE Select | NP_000960.2:n.-6C>T | |
| NR_146333.1:n.124C>T |