Linked Data
ClinVar Variation Id:
2566714
ClinVar RCV Id:
RCV003278159
dbSNP Id:
rs104894580
ExAC:
17:68171379 C / A
gnomAD v2:
17-68171379-C-A
gnomAD v4:
17-70175238-C-A
COSMIC:
COSM6465128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70175238C>A , CM000679.2:g.70175238C>A | GRCh38 |
| NC_000017.10:g.68171379C>A , CM000679.1:g.68171379C>A | GRCh37 |
| NC_000017.9:g.65682974C>A | NCBI36 |
| NG_008798.1:g.10704C>A , LRG_328:g.10704C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.199C>A MANE Select | ENSP00000243457.2:p.Arg67= | |
| ENST00000243457.3:c.199C>A | ENSP00000243457.2:p.Arg67= | |
| ENST00000535240.1:c.199C>A | ENSP00000441848.1:p.Arg67= | |
| NM_000891.2:c.199C>A , LRG_328t1:c.199C>A | NP_000882.1:p.Arg67= | |
| XM_011524779.1:c.199C>A | XP_011523081.1:p.Arg67= | |
| NM_000891.3:c.199C>A MANE Select | NP_000882.1:p.Arg67= |