Linked Data
ClinVar Variation Id:
493418
ClinVar RCV Id:
RCV000585523
dbSNP Id:
rs755681714
ExAC:
5:149452890 A / G
gnomAD v2:
5-149452890-A-G
gnomAD v3:
5-150073327-A-G
gnomAD v4:
5-150073327-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150073327A>G , CM000667.2:g.150073327A>G | GRCh38 |
| NC_000005.9:g.149452890A>G , CM000667.1:g.149452890A>G | GRCh37 |
| NC_000005.8:g.149433083A>G | NCBI36 |
| NG_012303.1:g.45046T>C | |
| NG_012303.2:g.45046T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.1056T>C MANE Select | ENSP00000501699.1:p.Ala352= | |
| ENST00000286301.7:c.1056T>C | ENSP00000286301.3:p.Ala352= | |
| ENST00000504875.5:c.1056T>C | ENSP00000422212.1:p.Ala352= | |
| ENST00000543093.1:c.890-2756T>C | ENSP00000445282.1:n.890-2756T>C | |
| NM_001288705.1:c.1056T>C | NP_001275634.1:p.Ala352= | |
| NM_005211.3:c.1056T>C | NP_005202.2:p.Ala352= | |
| NR_109969.1:n.1269T>C | ||
| NM_001288705.2:c.1056T>C | NP_001275634.1:p.Ala352= | |
| NM_001349736.1:c.1056T>C | NP_001336665.1:p.Ala352= | |
| NM_001288705.3:c.1056T>C MANE Select | NP_001275634.1:p.Ala352= | |
| NM_001375320.1:c.1056T>C | NP_001362249.1:p.Ala352= | |
| NM_001375321.1:c.612T>C | NP_001362250.1:p.Ala204= | |
| NR_164679.1:n.1112T>C | ||
| NM_001349736.2:c.1056T>C | NP_001336665.1:p.Ala352= | |
| NM_005211.4:c.1056T>C | NP_005202.2:p.Ala352= | |
| NR_109969.2:n.1183T>C |