Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63072990A>G , CM000670.2:g.63072990A>G | GRCh38 |
| NC_000008.10:g.63985549A>G , CM000670.1:g.63985549A>G | GRCh37 |
| NC_000008.9:g.64148103A>G | NCBI36 |
| NG_016123.1:g.18064T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000370.3:c.303T>C MANE Select | NP_000361.1:p.His101= |
| ENST00000260116.5:c.303T>C MANE Select | ENSP00000260116.4:p.His101= |
| ENST00000260116.4:c.303T>C | ENSP00000260116.4:p.His101= |
| ENST00000521138.1:n.232+12828T>C | |
| XM_006716468.2:c.205-8674T>C | XP_006716531.1:n.205-8674T>C |
| XM_006716468.4:c.205-8674T>C | XP_006716531.1:n.205-8674T>C |