Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232705C>T , CM000663.2:g.1232705C>T | GRCh38 |
| NC_000001.10:g.1168085C>T , CM000663.1:g.1168085C>T | GRCh37 |
| NC_000001.9:g.1157948C>T | NCBI36 |
| NG_030007.1:g.4363G>A | |
| NG_033265.1:g.5457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.427C>T MANE Select | ENSP00000368496.2:p.Leu143= | |
| ENST00000379198.3:c.427C>T | ENSP00000368496.2:p.Leu143= | |
| NM_080605.3:c.427C>T | NP_542172.2:p.Leu143= | |
| NM_080605.4:c.427C>T MANE Select | NP_542172.2:p.Leu143= |