Linked Data
ClinVar Variation Id:
31135
ClinVar RCV Id:
RCV000024131
dbSNP Id:
rs387907118
gnomAD v2:
16-89212411-C-T
gnomAD v3:
16-89146003-C-T
gnomAD v4:
16-89146003-C-T
COSMIC:
COSM1128841
PubMed:
PMID:21841779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89146003C>T , CM000678.2:g.89146003C>T | GRCh38 |
| NC_000016.9:g.89212411C>T , CM000678.1:g.89212411C>T | GRCh37 |
| NC_000016.8:g.87739912C>T | NCBI36 |
| NG_031961.1:g.57195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1567C>T | ENSP00000320646.4:p.Arg523Ter | |
| ENST00000614302.5:c.1567C>T MANE Select | ENSP00000479130.1:p.Arg523Ter | |
| ENST00000649953.1:c.1777C>T | ENSP00000497456.1:p.Arg593Ter | |
| ENST00000317447.8:c.1567C>T | ENSP00000320646.4:p.Arg523Ter | |
| ENST00000378345.8:c.772C>T | ENSP00000367596.4:p.Arg258Ter | |
| ENST00000406948.7:c.1567C>T | ENSP00000384627.3:p.Arg523Ter | |
| ENST00000535176.1:c.54C>T | ||
| ENST00000537116.5:n.693C>T | ||
| ENST00000537155.1:n.307C>T | ||
| ENST00000542688.5:c.*311C>T | ENSP00000446281.1:n.*311C>T | |
| ENST00000562204.1:n.540C>T | ||
| ENST00000614302.4:c.1567C>T | ENSP00000479130.1:p.Arg523Ter | |
| NM_001127214.3:c.1567C>T | NP_001120686.1:p.Arg523Ter | |
| NM_001243279.2:c.1567C>T | NP_001230208.1:p.Arg523Ter | |
| NM_001284316.1:c.772C>T | NP_001271245.1:p.Arg258Ter | |
| NM_174917.4:c.1567C>T | NP_777577.2:p.Arg523Ter | |
| NR_045667.2:n.693C>T | ||
| NR_104293.1:n.2001C>T | ||
| XM_005256293.1:c.1567C>T | XP_005256350.1:p.Arg523Ter | |
| XM_011522942.1:c.1567C>T | XP_011521244.1:p.Arg523Ter | |
| XM_011522943.1:c.1567C>T | XP_011521245.1:p.Arg523Ter | |
| XR_933239.1:n.2008C>T | ||
| XR_933240.1:n.2005C>T | ||
| XR_933241.1:n.1762C>T | ||
| NR_147928.1:n.2045C>T | ||
| NR_147929.1:n.1799C>T | ||
| XM_005256293.2:c.1567C>T | XP_005256350.1:p.Arg523Ter | |
| XM_017023018.1:c.1567C>T | XP_016878507.1:p.Arg523Ter | |
| XM_017023019.1:c.1567C>T | XP_016878508.1:p.Arg523Ter | |
| XM_017023020.2:c.-3538C>T | XP_016878509.1:n.-3538C>T | |
| XM_017023022.1:c.700C>T | XP_016878511.1:p.Arg234Ter | |
| XM_024450186.1:c.772C>T | XP_024305954.1:p.Arg258Ter | |
| XM_024450187.1:c.772C>T | XP_024305955.1:p.Arg258Ter | |
| XR_001751864.2:n.1814C>T | ||
| XR_001751865.1:n.1761C>T | ||
| XR_933240.3:n.2004C>T | ||
| NM_001127214.4:c.1567C>T | NP_001120686.1:p.Arg523Ter | |
| NM_001243279.3:c.1567C>T MANE Select | NP_001230208.1:p.Arg523Ter | |
| NM_001284316.2:c.772C>T | NP_001271245.1:p.Arg258Ter | |
| NM_174917.5:c.1567C>T | NP_777577.2:p.Arg523Ter | |
| NR_104293.2:n.1958C>T | ||
| NR_147928.2:n.2002C>T | ||
| NR_147929.2:n.1756C>T |