Linked Data
ClinVar Variation Id:
2387894
ClinVar RCV Id:
RCV002698698
dbSNP Id:
rs201740043
ExAC:
9:94519698 G / A
gnomAD v2:
9-94519698-G-A
gnomAD v3:
9-91757416-G-A
gnomAD v4:
9-91757416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91757416G>A , CM000671.2:g.91757416G>A | GRCh38 |
| NC_000009.11:g.94519698G>A , CM000671.1:g.94519698G>A | GRCh37 |
| NC_000009.10:g.93559519G>A | NCBI36 |
| NG_008089.1:g.197747C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.319C>T MANE Select | ENSP00000364860.3:p.Arg107Trp | |
| ENST00000375708.3:c.319C>T | ENSP00000364860.3:p.Arg107Trp | |
| ENST00000375715.5:c.-102C>T | ENSP00000364867.1:n.-102C>T | |
| ENST00000495386.5:n.582C>T | ||
| ENST00000548585.2:n.172+13C>T | ||
| ENST00000550066.5:n.787C>T | ||
| NM_004560.3:c.319C>T | NP_004551.2:p.Arg107Trp | |
| XM_005252008.3:c.-102C>T | XP_005252065.1:n.-102C>T | |
| XM_006717121.2:c.-102C>T | XP_006717184.1:n.-102C>T | |
| XM_011518721.1:c.-102C>T | XP_011517023.1:n.-102C>T | |
| NM_001318204.1:c.319C>T | NP_001305133.1:p.Arg107Trp | |
| XM_005252008.4:c.-102C>T | XP_005252065.1:n.-102C>T | |
| XM_006717121.3:c.-102C>T | XP_006717184.1:n.-102C>T | |
| XM_017014762.1:c.310C>T | XP_016870251.1:p.Arg104Trp | |
| XM_017014763.1:c.-102C>T | XP_016870252.1:n.-102C>T | |
| XR_001746315.1:n.562C>T | ||
| NM_004560.4:c.319C>T MANE Select | NP_004551.2:p.Arg107Trp | |
| NM_001318204.2:c.319C>T | NP_001305133.1:p.Arg107Trp |