Linked Data
ClinVar Variation Id:
1481159
ClinVar RCV Id:
RCV001994112
dbSNP Id:
rs373274945
ExAC:
1:68895506 C / T
gnomAD v2:
1-68895506-C-T
gnomAD v4:
1-68429823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429823C>T , CM000663.2:g.68429823C>T | GRCh38 |
| NC_000001.10:g.68895506C>T , CM000663.1:g.68895506C>T | GRCh37 |
| NC_000001.9:g.68668094C>T | NCBI36 |
| NG_008472.1:g.25137G>A | |
| NG_008472.2:g.25137G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1555G>A MANE Select | ENSP00000262340.5:p.Glu519Lys | |
| ENST00000262340.5:c.1555G>A | ENSP00000262340.5:p.Glu519Lys | |
| NM_000329.2:c.1555G>A | NP_000320.1:p.Glu519Lys | |
| XM_017002027.1:c.1279G>A | XP_016857516.1:p.Glu427Lys | |
| NM_000329.3:c.1555G>A MANE Select | NP_000320.1:p.Glu519Lys |