Linked Data
PubMed:
PMID:893139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[5226606T>C;5227003C>T] , CM000673.2:g.[5226606T>C;5227003C>T] | GRCh38 |
| NC_000011.9:g.[5247836T>C;5248233C>T] , CM000673.1:g.[5247836T>C;5248233C>T] | GRCh37 |
| NC_000011.8:g.[5204412T>C;5204809C>T] | NCBI36 |
| NG_000007.3:g.[70613G>A;71010A>G] | |
| NG_059281.1:g.[5069G>A;5466A>G] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.[19G>A;286A>G] | ENSP00000494175.1:p.[Glu7Lys;Lys96Glu] | |
| ENST00000335295.4:c.[19G>A;286A>G] MANE Select | ENSP00000333994.3:p.[Glu7Lys;Lys96Glu] | |
| ENST00000485743.1:n.[70G>A;337A>G] | ||
| ENST00000633227.1:c.[19G>A;*102A>G] | ENSP00000488004.1:[p.Glu7Lys;n.*102A>G] | |
| NM_000518.4:c.[19G>A;286A>G] | NP_000509.1:p.[Glu7Lys;Lys96Glu] | |
| NM_000518.5:c.[19G>A;286A>G] MANE Select | NP_000509.1:p.[Glu7Lys;Lys96Glu] |