Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[5225678C>T;5226988C>T] , CM000673.2:g.[5225678C>T;5226988C>T] | GRCh38 |
| NC_000011.9:g.[5246908C>T;5248218C>T] , CM000673.1:g.[5246908C>T;5248218C>T] | GRCh37 |
| NC_000011.8:g.[5203484C>T;5204794C>T] | NCBI36 |
| NG_000007.3:g.[70628G>A;71938G>A] | |
| NG_059281.1:g.[5084G>A;6394G>A] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.[34G>A;364G>A] MANE Select | NP_000509.1:p.[Val12Ile;Glu122Lys] |
| ENST00000335295.4:c.[34G>A;364G>A] MANE Select | ENSP00000333994.3:p.[Val12Ile;Glu122Lys] |
| NM_000518.4:c.[34G>A;364G>A] | NP_000509.1:p.[Val12Ile;Glu122Lys] |
| ENST00000633227.1:c.[34G>A;*180G>A] | ENSP00000488004.1:[p.Val12Ile;n.*180G>A] |
| ENST00000647020.1:c.[34G>A;364G>A] | ENSP00000494175.1:p.[Val12Ile;Glu122Lys] |