Linked Data
ClinVar Variation Id:
1231630
ClinVar RCV Id:
RCV001612394
dbSNP Id:
rs17362588
ExAC:
2:179721046 G / A
gnomAD v2:
2-179721046-G-A
gnomAD v3:
2-178856319-G-A
gnomAD v4:
2-178856319-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178856319G>A , CM000664.2:g.178856319G>A | GRCh38 |
| NC_000002.11:g.179721046G>A , CM000664.1:g.179721046G>A | GRCh37 |
| NC_000002.10:g.179429291G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443758.7:c.2803C>T MANE Select | ENSP00000390190.2:p.Arg935Trp | |
| ENST00000443758.6:c.2803C>T | ENSP00000390190.2:p.Arg935Trp | |
| ENST00000343876.6:c.1135C>T | ENSP00000344627.2:p.Arg379Trp | |
| ENST00000420890.6:c.2803C>T | ENSP00000395995.2:p.Arg935Trp | |
| ENST00000443758.5:c.2803C>T | ENSP00000390190.1:p.Arg935Trp | |
| NM_173648.3:c.2803C>T | NP_775919.3:p.Arg935Trp | |
| XM_011510991.1:c.2803C>T | XP_011509293.1:p.Arg935Trp | |
| XM_011510992.1:c.2803C>T | XP_011509294.1:p.Arg935Trp | |
| XM_011510993.1:c.2623C>T | XP_011509295.1:p.Arg875Trp | |
| XM_011510994.1:c.859C>T | XP_011509296.1:p.Arg287Trp | |
| XR_923628.1:n.1352+27665G>A | ||
| XM_011510991.3:c.2803C>T | XP_011509293.1:p.Arg935Trp | |
| XM_011510992.3:c.2803C>T | XP_011509294.1:p.Arg935Trp | |
| XM_011510993.3:c.2623C>T | XP_011509295.1:p.Arg875Trp | |
| XM_017003867.2:c.2803C>T | XP_016859356.1:p.Arg935Trp | |
| XM_017003868.2:c.2803C>T | XP_016859357.1:p.Arg935Trp | |
| XM_017003869.2:c.2803C>T | XP_016859358.1:p.Arg935Trp | |
| XM_017003870.2:c.1513C>T | XP_016859359.1:p.Arg505Trp | |
| XM_017003871.1:c.859C>T | XP_016859360.1:p.Arg287Trp | |
| XR_001738715.2:n.2992C>T | ||
| NM_173648.4:c.2803C>T MANE Select | NP_775919.3:p.Arg935Trp |