Linked Data
ClinVar Variation Id:
3059207
ClinVar RCV Id:
RCV003979775
dbSNP Id:
rs1208
ExAC:
8:18258316 G / A
gnomAD v2:
8-18258316-G-A
gnomAD v3:
8-18400806-G-A
gnomAD v4:
8-18400806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400806G>A , CM000670.2:g.18400806G>A | GRCh38 |
| NC_000008.10:g.18258316G>A , CM000670.1:g.18258316G>A | GRCh37 |
| NC_000008.9:g.18302596G>A | NCBI36 |
| NG_012246.1:g.14562G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.803G>A MANE Select | ENSP00000286479.3:p.Arg268Lys | |
| ENST00000286479.3:c.803G>A | ENSP00000286479.3:p.Arg268Lys | |
| ENST00000520116.1:c.413G>A | ENSP00000428416.1:p.Arg138Lys | |
| NM_000015.2:c.803G>A | NP_000006.2:p.Arg268Lys | |
| XM_011544358.1:c.803G>A | XP_011542660.1:p.Arg268Lys | |
| XM_017012938.1:c.803G>A | XP_016868427.1:p.Arg268Lys | |
| NM_000015.3:c.803G>A MANE Select | NP_000006.2:p.Arg268Lys |