Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120811453T>C , CM000670.2:g.120811453T>C | GRCh38 |
| NC_000008.10:g.121823693T>C , CM000670.1:g.121823693T>C | GRCh37 |
| NC_000008.9:g.121892874T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021021.4:c.391A>G MANE Select | NP_066301.1:p.Lys131Glu |
| ENST00000517992.2:c.391A>G MANE Select | ENSP00000431124.1:p.Lys131Glu |
| NM_021021.3:c.391A>G | NP_066301.1:p.Lys131Glu |
| ENST00000395601.7:c.391A>G | ENSP00000378965.3:p.Lys131Glu |
| ENST00000517992.1:c.391A>G | ENSP00000431124.1:p.Lys131Glu |
| ENST00000519177.5:n.111A>G | |
| ENST00000648490.1:c.391A>G | ENSP00000497707.1:p.Lys131Glu |
| XM_011517239.1:c.391A>G | XP_011515541.1:p.Lys131Glu |
| XM_011517239.2:c.391A>G | XP_011515541.1:p.Lys131Glu |