Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924279G>C , CM000675.2:g.27924279G>C | GRCh38 |
| NC_000013.10:g.28498416G>C , CM000675.1:g.28498416G>C | GRCh37 |
| NC_000013.9:g.27396416G>C | NCBI36 |
| NG_008183.1:g.9249G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.430G>C MANE Select | ENSP00000370421.4:p.Glu144Gln | |
| ENST00000381033.4:c.430G>C | ENSP00000370421.4:p.Glu144Gln | |
| NM_000209.3:c.430G>C | NP_000200.1:p.Glu144Gln | |
| XR_941578.1:n.3557G>C | ||
| XR_941579.1:n.2156G>C | ||
| XR_941580.1:n.1072G>C | ||
| XR_941578.2:n.3569G>C | ||
| XR_941580.2:n.1084G>C | ||
| NM_000209.4:c.430G>C MANE Select | NP_000200.1:p.Glu144Gln |