Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6877778T>G , CM000670.2:g.6877778T>G | GRCh38 |
| NC_000008.10:g.6735300T>G , CM000670.1:g.6735300T>G | GRCh37 |
| NC_000008.9:g.6722710T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297439.4:c.61+19A>C MANE Select | ENSP00000297439.3:n.61+19A>C | |
| ENST00000297439.3:c.61+19A>C | ENSP00000297439.3:n.61+19A>C | |
| NM_005218.3:c.61+19A>C | NP_005209.1:n.61+19A>C | |
| NM_005218.4:c.61+19A>C MANE Select | NP_005209.1:n.61+19A>C |