Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199873G>C , CM000671.2:g.137199873G>C | GRCh38 |
| NC_000009.11:g.140094325G>C , CM000671.1:g.140094325G>C | GRCh37 |
| NC_000009.10:g.139214146G>C | NCBI36 |
| NG_027801.1:g.5839C>G | |
| NG_027801.2:g.9321C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128228.3:c.839C>G MANE Select | NP_001121700.2:p.Thr280Ser |
| ENST00000409012.6:c.839C>G MANE Select | ENSP00000387100.4:p.Thr280Ser |
| NM_001128228.2:c.839C>G | NP_001121700.2:p.Thr280Ser |
| ENST00000333046.8:c.233C>G | ENSP00000327617.4:p.Thr78Ser |
| ENST00000409012.4:c.839C>G | ENSP00000387100.4:p.Thr280Ser |
| ENST00000541945.1:n.90+4231C>G |