Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6623830G>C , CM000673.2:g.6623830G>C | GRCh38 |
| NC_000011.9:g.6645061G>C , CM000673.1:g.6645061G>C | GRCh37 |
| NC_000011.8:g.6601637G>C | NCBI36 |
| NG_008653.1:g.632C>G | |
| NG_033858.1:g.37020C>G | |
| NG_033858.2:g.37020C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.7846C>G MANE Select | NP_003728.1:p.Pro2616Ala |
| ENST00000299441.5:c.7846C>G MANE Select | ENSP00000299441.3:p.Pro2616Ala |
| NM_003737.3:c.7846C>G | NP_003728.1:p.Pro2616Ala |
| ENST00000299441.4:c.7846C>G | ENSP00000299441.3:p.Pro2616Ala |