Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133354838A>G , CM000671.2:g.133354838A>G | GRCh38 |
| NC_000009.10:g.135211514A>G | NCBI36 |
| NG_008477.1:g.6669T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.226T>C MANE Select | NP_003163.1:p.Leu76= |
| ENST00000371974.8:c.226T>C MANE Select | ENSP00000361042.3:p.Leu76= |
| NM_001280787.1:c.-102T>C | NP_001267716.1:n.-102T>C |
| NM_003172.3:c.226T>C | NP_003163.1:p.Leu76= |
| ENST00000371974.7:c.226T>C | ENSP00000361042.3:p.Leu76= |
| ENST00000437995.1:n.172T>C | |
| ENST00000615505.4:c.-102T>C | ENSP00000482067.1:n.-102T>C |
| XM_011518942.1:c.-102T>C | XP_011517244.1:n.-102T>C |