Linked Data
ClinVar Variation Id:
1700675
dbSNP Id:
rs1208845035
gnomAD v2:
7-44184869-G-A
gnomAD v4:
7-44145270-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145270G>A , CM000669.2:g.44145270G>A | GRCh38 |
| NC_000007.13:g.44184869G>A , CM000669.1:g.44184869G>A | GRCh37 |
| NC_000007.12:g.44151394G>A | NCBI36 |
| NG_008847.1:g.49154C>T | |
| NG_008847.2:g.57901C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1262C>T | ENSP00000379142.4:n.*1262C>T | |
| ENST00000616242.5:c.*384C>T | ENSP00000482149.2:n.*384C>T | |
| ENST00000683378.1:n.490C>T | ||
| ENST00000336642.9:c.298C>T | ENSP00000338009.5:p.Arg100Trp | |
| ENST00000345378.7:c.1267C>T | ENSP00000223366.2:p.Arg423Trp | |
| ENST00000403799.8:c.1264C>T MANE Select | ENSP00000384247.3:p.Arg422Trp | |
| ENST00000671824.1:c.1327C>T | ENSP00000500264.1:p.Arg443Trp | |
| ENST00000672743.1:n.276C>T | ||
| ENST00000673284.1:c.1264C>T | ENSP00000499852.1:p.Arg422Trp | |
| ENST00000336642.8:c.316C>T | ENSP00000338009.4:p.Arg106Trp | |
| ENST00000345378.6:c.1267C>T | ENSP00000223366.2:p.Arg423Trp | |
| ENST00000395796.7:c.1261C>T | ENSP00000379142.3:p.Arg421Trp | |
| ENST00000403799.7:c.1264C>T | ENSP00000384247.3:p.Arg422Trp | |
| ENST00000437084.1:c.1213C>T | ENSP00000402840.1:p.Arg405Trp | |
| ENST00000459642.1:n.644C>T | ||
| ENST00000616242.4:c.1261C>T | ENSP00000482149.1:p.Arg421Trp | |
| NM_000162.3:c.1264C>T | NP_000153.1:p.Arg422Trp | |
| NM_033507.1:c.1267C>T | NP_277042.1:p.Arg423Trp | |
| NM_033508.1:c.1261C>T | NP_277043.1:p.Arg421Trp | |
| NM_000162.4:c.1264C>T | NP_000153.1:p.Arg422Trp | |
| NM_001354800.1:c.1264C>T | NP_001341729.1:p.Arg422Trp | |
| NM_001354801.1:c.253C>T | NP_001341730.1:p.Arg85Trp | |
| NM_001354802.1:c.124C>T | NP_001341731.1:p.Arg42Trp | |
| NM_001354803.1:c.298C>T | NP_001341732.1:p.Arg100Trp | |
| NM_033507.2:c.1267C>T | NP_277042.1:p.Arg423Trp | |
| NM_033508.2:c.1261C>T | NP_277043.1:p.Arg421Trp | |
| XM_024446707.1:c.124C>T | XP_024302475.1:p.Arg42Trp | |
| NM_000162.5:c.1264C>T MANE Select | NP_000153.1:p.Arg422Trp | |
| NM_033507.3:c.1267C>T | NP_277042.1:p.Arg423Trp | |
| NM_033508.3:c.1261C>T | NP_277043.1:p.Arg421Trp | |
| NM_001354803.2:c.298C>T | NP_001341732.1:p.Arg100Trp |