Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6694020A>G , CM000666.2:g.6694020A>G | GRCh38 |
| NC_000004.11:g.6695747A>G , CM000666.1:g.6695747A>G | GRCh37 |
| NC_000004.10:g.6746648A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296370.4:c.88A>G MANE Select | ENSP00000296370.3:p.Lys30Glu | |
| ENST00000296370.3:c.88A>G | ENSP00000296370.3:p.Lys30Glu | |
| ENST00000513778.1:n.35+108A>G | ||
| NM_005980.2:c.88A>G | NP_005971.1:p.Lys30Glu | |
| NM_005980.3:c.88A>G MANE Select | NP_005971.1:p.Lys30Glu |