Linked Data
ClinVar Variation Id:
373586
dbSNP Id:
rs1057518496
PubMed:
PMID:2918541
PMID:10417281
PMID:12915443
PMID:16751105
PMID:16960803
PMID:17377962
PMID:19576302
PMID:19668335
PMID:23849776
PMID:23925499
PMID:24301056
PMID:24363063
PMID:24896178
PMID:25106414
PMID:25885067
PMID:27409069
PMID:27668656
PMID:28139846
PMID:28151491
PMID:28170089
PMID:28211976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.199349006G>A , CM000664.2:g.199349006G>A | GRCh38 |
| NC_000002.11:g.200213729G>A , CM000664.1:g.200213729G>A | GRCh37 |
| NC_000002.10:g.199921974G>A | NCBI36 |
| NG_016976.1:g.127261C>T | |
| NG_016976.2:g.127261C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428695.6:c.514C>T | ENSP00000388581.1:p.Gln172Ter | |
| ENST00000700191.1:c.514C>T | ENSP00000514853.1:p.Gln172Ter | |
| ENST00000700193.1:c.868C>T | ENSP00000514854.1:p.Gln290Ter | |
| ENST00000700208.1:c.347-76334C>T | ENSP00000514860.1:n.347-76334C>T | |
| ENST00000700210.1:c.522C>T | ||
| ENST00000417098.6:c.868C>T MANE Select | ENSP00000401112.1:p.Gln290Ter | |
| ENST00000260926.9:c.868C>T | ENSP00000260926.5:p.Gln290Ter | |
| ENST00000417098.5:c.868C>T | ENSP00000401112.1:p.Gln290Ter | |
| ENST00000428695.5:c.514C>T | ENSP00000388581.1:p.Gln172Ter | |
| ENST00000443023.5:c.691C>T | ENSP00000388764.1:p.Gln231Ter | |
| ENST00000457245.5:c.868C>T | ENSP00000405420.1:p.Gln290Ter | |
| ENST00000483346.2:n.507C>T | ||
| ENST00000614512.4:c.514C>T | ENSP00000483287.1:p.Gln172Ter | |
| NM_001172509.1:c.868C>T | NP_001165980.1:p.Gln290Ter | |
| NM_001172517.1:c.868C>T | NP_001165988.1:p.Gln290Ter | |
| NM_015265.3:c.868C>T | NP_056080.1:p.Gln290Ter | |
| XM_005246396.1:c.694C>T | XP_005246453.1:p.Gln232Ter | |
| XM_006712372.1:c.868C>T | XP_006712435.1:p.Gln290Ter | |
| XM_011510840.1:c.868C>T | XP_011509142.1:p.Gln290Ter | |
| XM_005246396.3:c.694C>T | XP_005246453.1:p.Gln232Ter | |
| XM_011510840.3:c.868C>T | XP_011509142.1:p.Gln290Ter | |
| XM_017003656.1:c.694C>T | XP_016859145.1:p.Gln232Ter | |
| XM_024452767.1:c.445C>T | XP_024308535.1:p.Gln149Ter | |
| XM_024452768.1:c.445C>T | XP_024308536.1:p.Gln149Ter | |
| NM_001172509.2:c.868C>T MANE Select | NP_001165980.1:p.Gln290Ter | |
| NM_015265.4:c.868C>T | NP_056080.1:p.Gln290Ter |