Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45824058C>G , CM000682.2:g.45824058C>G | GRCh38 |
| NC_000020.10:g.44452697C>G , CM000682.1:g.44452697C>G | GRCh37 |
| NC_000020.9:g.43886104C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003279.3:c.384G>C MANE Select | NP_003270.1:p.Thr128= |
| ENST00000372555.8:c.384G>C MANE Select | ENSP00000361636.3:p.Thr128= |
| NM_003279.2:c.384G>C | NP_003270.1:p.Thr128= |
| ENST00000372555.7:c.384G>C | ENSP00000361636.3:p.Thr128= |
| ENST00000372557.1:c.339G>C | ENSP00000361638.1:p.Thr113= |
| XM_011529031.1:c.339G>C | XP_011527333.1:p.Thr113= |
| XM_011529031.2:c.339G>C | XP_011527333.1:p.Thr113= |