Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932028C>T , CM000666.2:g.67932028C>T | GRCh38 |
| NC_000004.11:g.68797746C>T , CM000666.1:g.68797746C>T | GRCh37 |
| NC_000004.10:g.68480341C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.285G>A MANE Select | ENSP00000426911.2:p.Lys95= | |
| ENST00000334830.11:c.294G>A | ENSP00000334611.7:p.Lys98= | |
| ENST00000396188.3:c.285G>A | ENSP00000379491.3:p.Lys95= | |
| ENST00000508048.5:c.285G>A | ENSP00000426911.2:p.Lys95= | |
| ENST00000513536.5:c.225G>A | ENSP00000427621.1:p.Lys75= | |
| NM_001114387.1:c.285G>A | NP_001107859.1:p.Lys95= | |
| NM_182606.3:c.294G>A | NP_872412.3:p.Lys98= | |
| NM_001114387.2:c.285G>A MANE Select | NP_001107859.1:p.Lys95= | |
| NM_182606.4:c.294G>A | NP_872412.3:p.Lys98= |