Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23404807C>T , CM000676.2:g.23404807C>T | GRCh38 |
| NC_000014.8:g.23874016C>T , CM000676.1:g.23874016C>T | GRCh37 |
| NC_000014.7:g.22943856C>T | NCBI36 |
| NG_023444.1:g.8471G>A , LRG_389:g.8471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.546G>A MANE Select | ENSP00000386041.3:p.Ala182= | |
| ENST00000557461.2:n.613G>A | ||
| ENST00000356287.3:c.546G>A | ENSP00000348634.3:p.Ala182= | |
| ENST00000405093.7:c.546G>A | ENSP00000386041.3:p.Ala182= | |
| ENST00000557461.1:n.600G>A | ||
| NM_002471.3:c.546G>A , LRG_389t1:c.546G>A | NP_002462.2:p.Ala182= | |
| NM_002471.4:c.546G>A MANE Select | NP_002462.2:p.Ala182= |