Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203498712C>T , CM000663.2:g.203498712C>T | GRCh38 |
| NC_000001.10:g.203467840C>T , CM000663.1:g.203467840C>T | GRCh37 |
| NC_000001.9:g.201734463C>T | NCBI36 |
| NG_022886.1:g.9570C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014359.4:c.402C>T MANE Select | NP_055174.1:p.Leu134= |
| ENST00000367222.7:c.402C>T MANE Select | ENSP00000356191.2:p.Leu134= |
| NM_014359.3:c.402C>T | NP_055174.1:p.Leu134= |
| ENST00000367222.6:c.402C>T | ENSP00000356191.2:p.Leu134= |
| ENST00000448911.1:c.371-35C>T | ENSP00000399491.1:n.371-35C>T |
| XM_011509406.1:c.402C>T | XP_011507708.1:p.Leu134= |
| XM_011509406.2:c.402C>T | XP_011507708.1:p.Leu134= |