Linked Data
ClinVar Variation Id:
3202552
ClinVar RCV Id:
RCV004495948
dbSNP Id:
rs773011655
ExAC:
17:56351029 A / G
gnomAD v2:
17-56351029-A-G
gnomAD v4:
17-58273668-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273668A>G , CM000679.2:g.58273668A>G | GRCh38 |
| NC_000017.10:g.56351029A>G , CM000679.1:g.56351029A>G | GRCh37 |
| NC_000017.9:g.53706028A>G | NCBI36 |
| NG_009629.1:g.12268T>C , LRG_84:g.12268T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.700T>C | ||
| ENST00000699291.1:c.492T>C | ENSP00000514272.1:p.Asp164= | |
| ENST00000699292.1:n.407T>C | ||
| ENST00000225275.4:c.1367T>C MANE Select | ENSP00000225275.3:p.Ile456Thr | |
| ENST00000225275.3:c.1367T>C | ENSP00000225275.3:p.Ile456Thr | |
| NM_000250.1:c.1367T>C , LRG_84t1:c.1367T>C | NP_000241.1:p.Ile456Thr | |
| XM_011524821.1:c.1553T>C | XP_011523123.1:p.Ile518Thr | |
| XM_011524822.1:c.1082T>C | XP_011523124.1:p.Ile361Thr | |
| XM_011524823.1:c.1392T>C | XP_011523125.1:p.Asp464= | |
| NM_000250.2:c.1367T>C MANE Select | NP_000241.1:p.Ile456Thr |