Linked Data
ClinVar Variation Id:
341945
ClinVar RCV Id:
RCV000389671
dbSNP Id:
rs6006460
ExAC:
22:44342174 G / T
gnomAD v2:
22-44342174-G-T
gnomAD v3:
22-43946294-G-T
gnomAD v4:
22-43946294-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946294G>T , CM000684.2:g.43946294G>T | GRCh38 |
| NC_000022.10:g.44342174G>T , CM000684.1:g.44342174G>T | GRCh37 |
| NC_000022.9:g.42673507G>T | NCBI36 |
| NG_008631.1:g.27556G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216180.8:c.1358G>T MANE Select | ENSP00000216180.3:p.Ser453Ile | |
| ENST00000216180.7:c.1358G>T | ENSP00000216180.3:p.Ser453Ile | |
| ENST00000406117.6:c.*849+1499G>T | ENSP00000384668.2:n.*849+1499G>T | |
| ENST00000423180.2:c.1346G>T | ENSP00000397987.2:p.Ser449Ile | |
| NM_025225.2:c.1358G>T | NP_079501.2:p.Ser453Ile | |
| NM_025225.3:c.1358G>T MANE Select | NP_079501.2:p.Ser453Ile |