Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616101C>T , CM000670.2:g.64616101C>T | GRCh38 |
| NC_000008.10:g.65528658C>T , CM000670.1:g.65528658C>T | GRCh37 |
| NC_000008.9:g.65691212C>T | NCBI36 |
| NG_008338.1:g.187691G>A | |
| NG_008338.2:g.187691G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004820.5:c.440G>A MANE Select | NP_004811.1:p.Gly147Asp |
| ENST00000310193.4:c.440G>A MANE Select | ENSP00000310721.3:p.Gly147Asp |
| NM_001324112.1:c.440G>A | NP_001311041.1:p.Gly147Asp |
| NM_001324112.2:c.440G>A | NP_001311041.1:p.Gly147Asp |
| NM_004820.3:c.440G>A | NP_004811.1:p.Gly147Asp |
| NM_004820.4:c.440G>A | NP_004811.1:p.Gly147Asp |
| ENST00000310193.3:c.440G>A | ENSP00000310721.3:p.Gly147Asp |
| XM_017014002.1:c.506G>A | XP_016869491.1:p.Gly169Asp |