Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88448213C>T , CM000664.2:g.88448213C>T | GRCh38 |
| NC_000002.11:g.88747732C>T , CM000664.1:g.88747732C>T | GRCh37 |
| NC_000002.10:g.88528847C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001135649.3:c.1257G>A MANE Select | NP_001129121.1:p.Glu419= |
| ENST00000428390.3:c.1257G>A MANE Select | ENSP00000478384.2:p.Glu419= |
| NM_001135649.1:c.1257G>A | NP_001129121.1:p.Glu419= |
| NM_001135649.2:c.1257G>A | NP_001129121.1:p.Glu419= |
| ENST00000428390.2:c.1257G>A | ENSP00000478384.2:p.Glu419= |