Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100734587G>C , CM000676.2:g.100734587G>C | GRCh38 |
| NC_000014.8:g.101200924G>C , CM000676.1:g.101200924G>C | GRCh37 |
| NC_000014.7:g.100270677G>C | NCBI36 |
| NG_016863.2:g.12723G>C | |
| NG_016863.3:g.12723G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003836.7:c.843G>C MANE Select | NP_003827.4:p.Glu281Asp |
| ENST00000341267.9:c.843G>C MANE Select | ENSP00000340292.4:p.Glu281Asp |
| NM_001317172.1:c.685-61G>C | NP_001304101.1:n.685-61G>C |
| NM_001317172.2:c.685-61G>C | NP_001304101.2:n.685-61G>C |
| NM_003836.5:c.843G>C | NP_003827.3:p.Glu281Asp |
| NM_003836.6:c.843G>C | NP_003827.3:p.Glu281Asp |
| ENST00000331224.10:c.685-61G>C | ENSP00000331081.6:n.685-61G>C |
| ENST00000341267.8:c.843G>C | ENSP00000340292.4:p.Glu281Asp |