Linked Data
ClinVar Variation Id:
238202
ClinVar RCV Id:
RCV000230178
dbSNP Id:
rs878854147
gnomAD v2:
17-8283164-G-A
gnomAD v3:
17-8379846-G-A
gnomAD v4:
17-8379846-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8379846G>A , CM000679.2:g.8379846G>A | GRCh38 |
| NC_000017.10:g.8283164G>A , CM000679.1:g.8283164G>A | GRCh37 |
| NC_000017.9:g.8223889G>A | NCBI36 |
| NG_031989.1:g.8402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583011.6:c.259C>T | ENSP00000462322.1:p.Arg87Trp | |
| ENST00000584164.6:c.259C>T | ENSP00000463784.1:p.Arg87Trp | |
| ENST00000584343.6:c.259C>T | ENSP00000464239.1:p.Arg87Trp | |
| ENST00000584906.6:c.*184C>T | ENSP00000462619.1:n.*184C>T | |
| ENST00000648839.1:c.259C>T MANE Select | ENSP00000498177.1:p.Arg87Trp | |
| ENST00000293842.9:c.259C>T | ENSP00000293842.5:p.Arg87Trp | |
| ENST00000578069.1:n.239C>T | ||
| ENST00000578812.5:c.259C>T | ENSP00000463910.1:p.Arg87Trp | |
| ENST00000582471.1:c.259C>T | ENSP00000463847.1:p.Arg87Trp | |
| ENST00000582485.5:c.258C>T | ||
| ENST00000582556.5:c.259C>T | ENSP00000463470.1:p.Arg87Trp | |
| ENST00000583011.5:c.259C>T | ENSP00000462322.1:p.Arg87Trp | |
| ENST00000583515.1:c.259C>T | ENSP00000463021.1:p.Arg87Trp | |
| ENST00000584164.5:c.259C>T | ENSP00000463784.1:p.Arg87Trp | |
| ENST00000584343.5:c.259C>T | ENSP00000464239.1:p.Arg87Trp | |
| ENST00000584441.5:c.91C>T | ENSP00000462249.1:p.Arg31Trp | |
| ENST00000584906.5:c.*184C>T | ENSP00000462619.1:n.*184C>T | |
| ENST00000585176.1:n.220C>T | ||
| NM_000987.3:c.259C>T | NP_000978.1:p.Arg87Trp | |
| NM_001315530.1:c.259C>T | NP_001302459.1:p.Arg87Trp | |
| NM_001315531.1:c.259C>T | NP_001302460.1:p.Arg87Trp | |
| XR_934207.1:n.1674-1199G>A | ||
| NM_000987.5:c.259C>T MANE Select | NP_000978.1:p.Arg87Trp | |
| NM_001315530.2:c.259C>T | NP_001302459.1:p.Arg87Trp | |
| NM_001315531.2:c.259C>T | NP_001302460.1:p.Arg87Trp |