Linked Data
ClinVar Variation Id:
15278
ClinVar RCV Id:
RCV000016504
RCV000016505
RCV000016506
RCV000016507
RCV000016508
RCV000506157
RCV000755549
RCV001835628
dbSNP Id:
rs33914359
gnomAD v2:
11-5247836-T-C
gnomAD v3:
11-5226606-T-C
gnomAD v4:
11-5226606-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226606T>C , CM000673.2:g.5226606T>C | GRCh38 |
| NC_000011.9:g.5247836T>C , CM000673.1:g.5247836T>C | GRCh37 |
| NC_000011.8:g.5204412T>C | NCBI36 |
| NG_000007.3:g.71010A>G | |
| NG_059281.1:g.5466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.286A>G | ENSP00000494175.1:p.Lys96Glu | |
| ENST00000335295.4:c.286A>G MANE Select | ENSP00000333994.3:p.Lys96Glu | |
| ENST00000475226.1:n.218A>G | ||
| ENST00000485743.1:n.337A>G | ||
| ENST00000633227.1:c.*102A>G | ENSP00000488004.1:n.*102A>G | |
| NM_000518.4:c.286A>G | NP_000509.1:p.Lys96Glu | |
| NM_000518.5:c.286A>G MANE Select | NP_000509.1:p.Lys96Glu |