Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143479101A>C , CM000668.2:g.143479101A>C | GRCh38 |
| NC_000006.11:g.143800238A>C , CM000668.1:g.143800238A>C | GRCh37 |
| NC_000006.10:g.143841931A>C | NCBI36 |
| NG_008459.1:g.33321A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003630.3:c.844A>C MANE Select | NP_003621.1:p.Thr282Pro |
| ENST00000367591.5:c.844A>C MANE Select | ENSP00000356563.4:p.Thr282Pro |
| NM_003630.2:c.844A>C | NP_003621.1:p.Thr282Pro |
| ENST00000367591.4:c.844A>C | ENSP00000356563.4:p.Thr282Pro |