Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62707750T>G , CM000676.2:g.62707750T>G | GRCh38 |
| NC_000014.8:g.63174468T>G , CM000676.1:g.63174468T>G | GRCh37 |
| NC_000014.7:g.62244221T>G | NCBI36 |
| NG_034062.1:g.342489A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139318.5:c.2725A>C MANE Select | NP_647479.2:p.Thr909Pro |
| ENST00000322893.12:c.2725A>C MANE Select | ENSP00000321427.7:p.Thr909Pro |
| NM_139318.4:c.2725A>C | NP_647479.2:p.Thr909Pro |
| NM_172375.2:c.*692A>C | NP_758963.1:n.*692A>C |
| NM_172375.3:c.*692A>C | NP_758963.1:n.*692A>C |
| ENST00000322893.11:c.2725A>C | ENSP00000321427.7:p.Thr909Pro |
| ENST00000420622.6:c.2528A>C | ENSP00000395439.2:n.2528A>C |