Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[5225678C>G;5226943C>T] , CM000673.2:g.[5225678C>G;5226943C>T] | GRCh38 |
| NC_000011.9:g.[5246908C>G;5248173C>T] , CM000673.1:g.[5246908C>G;5248173C>T] | GRCh37 |
| NC_000011.8:g.[5203484C>G;5204749C>T] | NCBI36 |
| NG_000007.3:g.[70673G>A;71938G>C] | |
| NG_059281.1:g.[5129G>A;6394G>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.[79G>A;364G>C] | ENSP00000494175.1:p.[Glu27Lys;Glu122Gln] | |
| ENST00000335295.4:c.[79G>A;364G>C] MANE Select | ENSP00000333994.3:p.[Glu27Lys;Glu122Gln] | |
| ENST00000633227.1:c.[76+3G>A;*180G>C] | ENSP00000488004.1:n.[76+3G>A;*180G>C] | |
| NM_000518.4:c.[79G>A;364G>C] | NP_000509.1:p.[Glu27Lys;Glu122Gln] | |
| NM_000518.5:c.[79G>A;364G>C] MANE Select | NP_000509.1:p.[Glu27Lys;Glu122Gln] |