Linked Data
ClinVar Variation Id:
369665
ClinVar RCV Id:
RCV000408616
dbSNP Id:
rs1057516034
PubMed:
PMID:26938784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37052453C>T , CM000667.2:g.37052453C>T | GRCh38 |
| NC_000005.9:g.37052555C>T , CM000667.1:g.37052555C>T | GRCh37 |
| NC_000005.8:g.37088312C>T | NCBI36 |
| NG_006987.1:g.180571C>T | |
| NG_006987.2:g.180571C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.7150C>T MANE Select | ENSP00000282516.8:p.Gln2384Ter | |
| ENST00000652901.1:c.7150C>T | ENSP00000499536.1:p.Gln2384Ter | |
| ENST00000282516.12:c.7150C>T | ENSP00000282516.8:p.Gln2384Ter | |
| ENST00000448238.2:c.7150C>T | ENSP00000406266.2:p.Gln2384Ter | |
| ENST00000514335.1:n.1032C>T | ||
| ENST00000621733.1:c.1-12125C>T | ENSP00000480694.1:n.1-12125C>T | |
| NM_015384.4:c.7150C>T | NP_056199.2:p.Gln2384Ter | |
| NM_133433.3:c.7150C>T | NP_597677.2:p.Gln2384Ter | |
| XM_005248280.2:c.7150C>T | XP_005248337.1:p.Gln2384Ter | |
| XM_005248282.3:c.6406C>T | XP_005248339.2:p.Gln2136Ter | |
| XM_006714467.2:c.7150C>T | XP_006714530.1:p.Gln2384Ter | |
| XM_006714468.1:c.6952C>T | XP_006714531.1:p.Gln2318Ter | |
| XM_011514014.1:c.6769C>T | XP_011512316.1:p.Gln2257Ter | |
| XM_011514015.1:c.7150C>T | XP_011512317.1:p.Gln2384Ter | |
| XM_005248280.3:c.7150C>T | XP_005248337.1:p.Gln2384Ter | |
| XM_005248282.5:c.6490C>T | XP_005248339.3:p.Gln2164Ter | |
| XM_006714468.2:c.6952C>T | XP_006714531.1:p.Gln2318Ter | |
| XM_017009329.1:c.7150C>T | XP_016864818.1:p.Gln2384Ter | |
| XM_017009330.2:c.5533C>T | XP_016864819.1:p.Gln1845Ter | |
| XM_017009331.1:c.5524C>T | XP_016864820.1:p.Gln1842Ter | |
| NM_133433.4:c.7150C>T MANE Select | NP_597677.2:p.Gln2384Ter | |
| NM_015384.5:c.7150C>T | NP_056199.2:p.Gln2384Ter |