Linked Data
ClinVar Variation Id:
2416263
ClinVar RCV Id:
RCV003107012
dbSNP Id:
rs781385572
ExAC:
5:149436927 G / A
gnomAD v2:
5-149436927-G-A
gnomAD v3:
5-150057364-G-A
gnomAD v4:
5-150057364-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150057364G>A , CM000667.2:g.150057364G>A | GRCh38 |
| NC_000005.9:g.149436927G>A , CM000667.1:g.149436927G>A | GRCh37 |
| NC_000005.8:g.149417120G>A | NCBI36 |
| NG_012303.1:g.61009C>T | |
| NG_012303.2:g.61009C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.2242C>T MANE Select | ENSP00000501699.1:p.Arg748Trp | |
| ENST00000286301.7:c.2242C>T | ENSP00000286301.3:p.Arg748Trp | |
| ENST00000504875.5:c.*63C>T | ENSP00000422212.1:n.*63C>T | |
| ENST00000515068.1:c.411C>T | ENSP00000427545.1:n.411C>T | |
| NM_001288705.1:c.2242C>T | NP_001275634.1:p.Arg748Trp | |
| NM_005211.3:c.2242C>T | NP_005202.2:p.Arg748Trp | |
| NR_109969.1:n.2292C>T | ||
| NM_001288705.2:c.2242C>T | NP_001275634.1:p.Arg748Trp | |
| NM_001349736.1:c.2242C>T | NP_001336665.1:p.Arg748Trp | |
| NM_001288705.3:c.2242C>T MANE Select | NP_001275634.1:p.Arg748Trp | |
| NM_001375320.1:c.2242C>T | NP_001362249.1:p.Arg748Trp | |
| NM_001375321.1:c.1798C>T | NP_001362250.1:p.Arg600Trp | |
| NR_164679.1:n.2135C>T | ||
| NM_001349736.2:c.2242C>T | NP_001336665.1:p.Arg748Trp | |
| NM_005211.4:c.2242C>T | NP_005202.2:p.Arg748Trp | |
| NR_109969.2:n.2206C>T |