Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999241C>T , CM000663.2:g.54999241C>T | GRCh38 |
| NC_000001.10:g.55464914C>T , CM000663.1:g.55464914C>T | GRCh37 |
| NC_000001.9:g.55237502C>T | NCBI36 |
| NG_008965.1:g.5298C>T | |
| NG_008965.2:g.5309C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.55C>T MANE Select | ENSP00000498282.1:p.Leu19= | |
| ENST00000371265.4:c.55C>T | ENSP00000360312.4:p.Leu19= | |
| NM_057176.2:c.55C>T | NP_476517.1:p.Leu19= | |
| NM_057176.3:c.55C>T MANE Select | NP_476517.1:p.Leu19= |