Linked Data
ClinVar Variation Id:
863569
ClinVar RCV Id:
RCV001070563
dbSNP Id:
rs757230483
ExAC:
17:7915582 C / T
gnomAD v2:
17-7915582-C-T
gnomAD v3:
17-8012264-C-T
gnomAD v4:
17-8012264-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012264C>T , CM000679.2:g.8012264C>T | GRCh38 |
| NC_000017.10:g.7915582C>T , CM000679.1:g.7915582C>T | GRCh37 |
| NC_000017.9:g.7856307C>T | NCBI36 |
| NG_009092.1:g.14595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1870C>T MANE Select | ENSP00000254854.4:p.Arg624Trp | |
| ENST00000254854.4:c.1870C>T | ENSP00000254854.4:p.Arg624Trp | |
| NM_000180.3:c.1870C>T | NP_000171.1:p.Arg624Trp | |
| XM_011523816.1:c.1870C>T | XP_011522118.1:p.Arg624Trp | |
| NM_000180.4:c.1870C>T MANE Select | NP_000171.1:p.Arg624Trp |