Linked Data
ClinVar Variation Id:
31134
dbSNP Id:
rs141090143
ExAC:
16:89220556 C / T
gnomAD v2:
16-89220556-C-T
gnomAD v3:
16-89154148-C-T
gnomAD v4:
16-89154148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154148C>T , CM000678.2:g.89154148C>T | GRCh38 |
| NC_000016.9:g.89220556C>T , CM000678.1:g.89220556C>T | GRCh37 |
| NC_000016.8:g.87748057C>T | NCBI36 |
| NG_031961.1:g.65340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1672C>T | ENSP00000320646.4:p.Arg558Trp | |
| ENST00000614302.5:c.1672C>T MANE Select | ENSP00000479130.1:p.Arg558Trp | |
| ENST00000649953.1:c.1882C>T | ENSP00000497456.1:p.Arg628Trp | |
| ENST00000317447.8:c.1672C>T | ENSP00000320646.4:p.Arg558Trp | |
| ENST00000378345.8:c.877C>T | ENSP00000367596.4:p.Arg293Trp | |
| ENST00000393145.5:n.6582C>T | ||
| ENST00000406948.7:c.1672C>T | ENSP00000384627.3:p.Arg558Trp | |
| ENST00000537116.5:n.798C>T | ||
| ENST00000537155.1:n.412C>T | ||
| ENST00000542688.5:c.*416C>T | ENSP00000446281.1:n.*416C>T | |
| ENST00000614302.4:c.1672C>T | ENSP00000479130.1:p.Arg558Trp | |
| NM_001127214.3:c.1672C>T | NP_001120686.1:p.Arg558Trp | |
| NM_001243279.2:c.1672C>T | NP_001230208.1:p.Arg558Trp | |
| NM_001284316.1:c.877C>T | NP_001271245.1:p.Arg293Trp | |
| NM_174917.4:c.1672C>T | NP_777577.2:p.Arg558Trp | |
| NR_045667.2:n.798C>T | ||
| NR_104293.1:n.2106C>T | ||
| XR_933239.1:n.2113C>T | ||
| XR_933240.1:n.2110C>T | ||
| XR_933241.1:n.1867C>T | ||
| NR_147928.1:n.2150C>T | ||
| NR_147929.1:n.1904C>T | ||
| XM_017023020.2:c.-3433C>T | XP_016878509.1:n.-3433C>T | |
| XM_024450187.1:c.877C>T | XP_024305955.1:p.Arg293Trp | |
| XR_001751864.2:n.1919C>T | ||
| XR_933240.3:n.2109C>T | ||
| NM_001127214.4:c.1672C>T | NP_001120686.1:p.Arg558Trp | |
| NM_001243279.3:c.1672C>T MANE Select | NP_001230208.1:p.Arg558Trp | |
| NM_001284316.2:c.877C>T | NP_001271245.1:p.Arg293Trp | |
| NM_174917.5:c.1672C>T | NP_777577.2:p.Arg558Trp | |
| NR_104293.2:n.2063C>T | ||
| NR_147928.2:n.2107C>T | ||
| NR_147929.2:n.1861C>T |