Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6626700C>G , CM000673.2:g.6626700C>G | GRCh38 |
| NC_000011.9:g.6647931C>G , CM000673.1:g.6647931C>G | GRCh37 |
| NC_000011.8:g.6604507C>G | NCBI36 |
| NG_033858.1:g.34150G>C | |
| NG_033858.2:g.34150G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003737.4:c.6251-35G>C MANE Select | NP_003728.1:n.6251-35G>C |
| ENST00000299441.5:c.6251-35G>C MANE Select | ENSP00000299441.3:n.6251-35G>C |
| NM_003737.3:c.6251-35G>C | NP_003728.1:n.6251-35G>C |
| ENST00000299441.4:c.6251-35G>C | ENSP00000299441.3:n.6251-35G>C |