Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.107311687C>T , CM000671.2:g.107311687C>T | GRCh38 |
| NC_000009.11:g.110073968C>T , CM000671.1:g.110073968C>T | GRCh37 |
| NC_000009.10:g.109113789C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002874.5:c.503C>T MANE Select | NP_002865.1:p.Ser168Leu |
| ENST00000358015.8:c.503C>T MANE Select | ENSP00000350708.3:p.Ser168Leu |
| NM_001244713.1:c.440C>T | NP_001231642.1:p.Ser147Leu |
| NM_001244724.1:c.287C>T | NP_001231653.1:p.Ser96Leu |
| NM_001244724.2:c.287C>T | NP_001231653.1:p.Ser96Leu |
| NM_002874.4:c.503C>T | NP_002865.1:p.Ser168Leu |
| ENST00000358015.7:c.503C>T | ENSP00000350708.3:p.Ser168Leu |
| ENST00000416373.6:c.287C>T | ENSP00000405623.2:p.Ser96Leu |
| ENST00000457811.1:c.112C>T |