Linked Data
ClinVar Variation Id:
496748
dbSNP Id:
rs1459714680
gnomAD v2:
16-58052939-C-T
gnomAD v4:
16-58019035-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58019035C>T , CM000678.2:g.58019035C>T | GRCh38 |
| NC_000016.9:g.58052939C>T , CM000678.1:g.58052939C>T | GRCh37 |
| NC_000016.8:g.56610440C>T | NCBI36 |
| NG_027698.1:g.22663C>T , LRG_352:g.22663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561568.6:c.634C>T | ENSP00000457322.2:p.Gln212Ter | |
| ENST00000565662.6:c.*152C>T | ENSP00000513729.1:n.*152C>T | |
| ENST00000698444.1:c.520C>T | ENSP00000513726.1:p.Gln174Ter | |
| ENST00000698445.1:c.567C>T | ENSP00000513727.1:p.Gly189= | |
| ENST00000698446.1:c.*364C>T | ENSP00000513728.1:n.*364C>T | |
| ENST00000698447.1:c.*330C>T | ENSP00000513732.1:n.*330C>T | |
| ENST00000219281.8:c.673C>T MANE Select | ENSP00000219281.3:p.Gln225Ter | |
| ENST00000219281.7:c.673C>T | ENSP00000219281.3:p.Gln225Ter | |
| ENST00000539737.6:c.619C>T | ENSP00000446143.2:p.Gln207Ter | |
| ENST00000561743.5:c.520C>T | ENSP00000454928.1:p.Gln174Ter | |
| ENST00000565151.1:n.868C>T | ||
| ENST00000565662.5:n.718C>T | ||
| ENST00000566082.1:n.2391C>T | ||
| NM_001195302.1:c.619C>T | NP_001182231.1:p.Gln207Ter | |
| NM_024598.3:c.673C>T , LRG_352t1:c.673C>T | NP_078874.2:p.Gln225Ter | |
| XM_005256144.3:c.520C>T | XP_005256201.1:p.Gln174Ter | |
| XM_011523328.1:c.634C>T | XP_011521630.1:p.Gln212Ter | |
| XM_011523329.1:c.520C>T | XP_011521631.1:p.Gln174Ter | |
| NM_001330568.1:c.520C>T | NP_001317497.1:p.Gln174Ter | |
| NM_001195302.2:c.619C>T | NP_001182231.1:p.Gln207Ter | |
| NM_001330568.2:c.520C>T | NP_001317497.1:p.Gln174Ter | |
| NM_024598.4:c.673C>T MANE Select | NP_078874.2:p.Gln225Ter |