Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63073089C>G , CM000670.2:g.63073089C>G | GRCh38 |
| NC_000008.10:g.63985648C>G , CM000670.1:g.63985648C>G | GRCh37 |
| NC_000008.9:g.64148202C>G | NCBI36 |
| NG_016123.1:g.17965G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000370.3:c.205-1G>C MANE Select | NP_000361.1:n.205-1G>C |
| ENST00000260116.5:c.205-1G>C MANE Select | ENSP00000260116.4:n.205-1G>C |
| ENST00000260116.4:c.205-1G>C | ENSP00000260116.4:n.205-1G>C |
| ENST00000521138.1:n.232+12729G>C | |
| XM_006716468.2:c.205-8773G>C | XP_006716531.1:n.205-8773G>C |
| XM_006716468.4:c.205-8773G>C | XP_006716531.1:n.205-8773G>C |