Linked Data
ClinVar Variation Id:
496751
ClinVar RCV Id:
RCV000599089
dbSNP Id:
rs374559185
gnomAD v2:
16-58036516-C-T
gnomAD v3:
16-58002612-C-T
gnomAD v4:
16-58002612-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58002612C>T , CM000678.2:g.58002612C>T | GRCh38 |
| NC_000016.9:g.58036516C>T , CM000678.1:g.58036516C>T | GRCh37 |
| NC_000016.8:g.56594017C>T | NCBI36 |
| NG_027698.1:g.6240C>T , LRG_352:g.6240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423271.8:c.232C>T | ENSP00000409792.3:p.Arg78Ter | |
| ENST00000561568.6:c.193C>T | ENSP00000457322.2:p.Arg65Ter | |
| ENST00000563149.2:c.232C>T | ENSP00000454692.1:p.Arg78Ter | |
| ENST00000565662.6:c.232C>T | ENSP00000513729.1:p.Arg78Ter | |
| ENST00000698444.1:c.79C>T | ENSP00000513726.1:p.Arg27Ter | |
| ENST00000698445.1:c.232C>T | ENSP00000513727.1:p.Arg78Ter | |
| ENST00000698446.1:c.232C>T | ENSP00000513728.1:p.Arg78Ter | |
| ENST00000698447.1:c.232C>T | ENSP00000513732.1:p.Arg78Ter | |
| ENST00000698510.1:c.232C>T | ENSP00000513760.1:p.Arg78Ter | |
| ENST00000219281.8:c.232C>T MANE Select | ENSP00000219281.3:p.Arg78Ter | |
| ENST00000219281.7:c.232C>T | ENSP00000219281.3:p.Arg78Ter | |
| ENST00000423271.7:c.232C>T | ENSP00000409792.3:p.Arg78Ter | |
| ENST00000539737.6:c.232C>T | ENSP00000446143.2:p.Arg78Ter | |
| ENST00000561568.5:c.193C>T | ENSP00000457322.1:p.Arg65Ter | |
| ENST00000561743.5:c.79C>T | ENSP00000454928.1:p.Arg27Ter | |
| ENST00000562534.5:n.188-4C>T | ||
| ENST00000563149.1:c.232C>T | ENSP00000454692.1:p.Arg78Ter | |
| ENST00000563207.1:n.292C>T | ||
| ENST00000564387.5:c.210+22C>T | ENSP00000457302.1:n.210+22C>T | |
| ENST00000565662.5:n.309C>T | ||
| ENST00000566292.5:n.300C>T | ||
| ENST00000568848.5:n.297C>T | ||
| ENST00000569252.5:n.300C>T | ||
| NM_001195302.1:c.232C>T | NP_001182231.1:p.Arg78Ter | |
| NM_001204911.1:c.232C>T | NP_001191840.1:p.Arg78Ter | |
| NM_024598.3:c.232C>T , LRG_352t1:c.232C>T | NP_078874.2:p.Arg78Ter | |
| XM_005256144.3:c.79C>T | XP_005256201.1:p.Arg27Ter | |
| XM_011523328.1:c.193C>T | XP_011521630.1:p.Arg65Ter | |
| XM_011523329.1:c.79C>T | XP_011521631.1:p.Arg27Ter | |
| XM_011523330.1:c.232C>T | XP_011521632.1:p.Arg78Ter | |
| XR_933427.1:n.309C>T | ||
| XR_933428.1:n.309C>T | ||
| NM_001330568.1:c.79C>T | NP_001317497.1:p.Arg27Ter | |
| NM_001330569.1:c.232C>T | NP_001317498.1:p.Arg78Ter | |
| NM_001195302.2:c.232C>T | NP_001182231.1:p.Arg78Ter | |
| NM_001204911.2:c.232C>T | NP_001191840.1:p.Arg78Ter | |
| NM_001330568.2:c.79C>T | NP_001317497.1:p.Arg27Ter | |
| NM_001330569.2:c.232C>T | NP_001317498.1:p.Arg78Ter | |
| NM_024598.4:c.232C>T MANE Select | NP_078874.2:p.Arg78Ter |