Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4234939T>G , CM000682.2:g.4234939T>G | GRCh38 |
| NC_000020.10:g.4215586T>G , CM000682.1:g.4215586T>G | GRCh37 |
| NC_000020.9:g.4163586T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379453.6:c.1112-12809A>C MANE Select | ENSP00000368766.4:n.1112-12809A>C | |
| ENST00000379453.5:c.1112-12809A>C | ENSP00000368766.4:n.1112-12809A>C | |
| NM_000678.3:c.1112-12809A>C | NP_000669.1:n.1112-12809A>C | |
| NM_000678.4:c.1112-12809A>C MANE Select | NP_000669.1:n.1112-12809A>C |