Linked Data
ClinVar Variation Id:
190393
ClinVar RCV Id:
RCV000170531
dbSNP Id:
rs786205698
gnomAD v2:
2-47251433-C-T
gnomAD v4:
2-47024294-C-T
PubMed:
PMID:24417819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47024294C>T , CM000664.2:g.47024294C>T | GRCh38 |
| NC_000002.11:g.47251433C>T , CM000664.1:g.47251433C>T | GRCh37 |
| NC_000002.10:g.47104937C>T | NCBI36 |
| NG_034143.1:g.113166C>T | |
| NG_034143.2:g.113166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.3409C>T | ||
| ENST00000319190.11:c.1576C>T MANE Select | ENSP00000316699.5:p.Gln526Ter | |
| ENST00000651101.1:n.524C>T | ||
| ENST00000651415.1:n.367C>T | ||
| ENST00000652236.1:n.277C>T | ||
| ENST00000652568.1:n.249C>T | ||
| ENST00000319190.9:c.1576C>T | ENSP00000316699.5:p.Gln526Ter | |
| ENST00000394850.6:c.1576C>T | ENSP00000378320.2:p.Gln526Ter | |
| ENST00000409245.5:c.1474C>T | ENSP00000386307.1:p.Gln492Ter | |
| ENST00000409825.5:c.1524C>T | ||
| ENST00000440051.1:c.383C>T | ||
| ENST00000441914.5:c.1417C>T | ||
| ENST00000461601.5:n.1901C>T | ||
| ENST00000484061.5:n.683C>T | ||
| ENST00000491786.5:n.980C>T | ||
| NM_001288951.1:c.1576C>T | NP_001275880.1:p.Gln526Ter | |
| NM_001288953.1:c.1474C>T | NP_001275882.1:p.Gln492Ter | |
| NM_001288955.1:c.514C>T | NP_001275884.1:p.Gln172Ter | |
| NM_020458.3:c.1576C>T | NP_065191.2:p.Gln526Ter | |
| XM_005264439.2:c.1219C>T | XP_005264496.1:p.Gln407Ter | |
| XM_011532998.1:c.1219C>T | XP_011531300.1:p.Gln407Ter | |
| XM_011532999.1:c.1576C>T | XP_011531301.1:p.Gln526Ter | |
| XM_011533000.1:c.796C>T | XP_011531302.1:p.Gln266Ter | |
| XM_011533001.1:c.529C>T | XP_011531303.1:p.Gln177Ter | |
| XR_939696.1:n.1881C>T | ||
| XM_005264439.4:c.1219C>T | XP_005264496.1:p.Gln407Ter | |
| XM_011532998.3:c.1219C>T | XP_011531300.1:p.Gln407Ter | |
| XM_011532999.2:c.1576C>T | XP_011531301.1:p.Gln526Ter | |
| XM_011533000.3:c.796C>T | XP_011531302.1:p.Gln266Ter | |
| XM_011533001.3:c.529C>T | XP_011531303.1:p.Gln177Ter | |
| XM_017004524.1:c.1576C>T | XP_016860013.1:p.Gln526Ter | |
| XM_017004525.1:c.1408C>T | XP_016860014.1:p.Gln470Ter | |
| XM_017004526.1:c.1393-4930C>T | XP_016860015.1:n.1393-4930C>T | |
| XM_017004529.1:c.1576C>T | XP_016860018.1:p.Gln526Ter | |
| XM_024453013.1:c.541C>T | XP_024308781.1:p.Gln181Ter | |
| XR_001738853.2:n.1888C>T | ||
| XR_001738854.1:n.1769C>T | ||
| NM_020458.4:c.1576C>T MANE Select | NP_065191.2:p.Gln526Ter | |
| NM_001288951.2:c.1576C>T | NP_001275880.1:p.Gln526Ter | |
| NM_001288953.2:c.1474C>T | NP_001275882.1:p.Gln492Ter | |
| NM_001288955.2:c.514C>T | NP_001275884.1:p.Gln172Ter |