Linked Data
ClinVar Variation Id:
279929
dbSNP Id:
rs113432057
ExAC:
9:328076 C / T
gnomAD v2:
9-328076-C-T
gnomAD v3:
9-328076-C-T
gnomAD v4:
9-328076-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.328076C>T , CM000671.2:g.328076C>T | GRCh38 |
| NC_000009.11:g.328076C>T , CM000671.1:g.328076C>T | GRCh37 |
| NC_000009.10:g.318076C>T | NCBI36 |
| NG_017007.1:g.118212C>T , LRG_196:g.118212C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.745C>T | ENSP00000371766.2:p.Arg249Ter | |
| ENST00000483757.6:c.745C>T | ENSP00000417691.2:p.Arg249Ter | |
| ENST00000432829.7:c.949C>T MANE Select | ENSP00000394888.3:p.Arg317Ter | |
| ENST00000382341.5:n.844C>T | ||
| ENST00000432829.6:c.949C>T | ENSP00000394888.3:p.Arg317Ter | |
| ENST00000453981.5:c.745C>T | ENSP00000408464.2:p.Arg249Ter | |
| ENST00000454469.6:n.1058C>T | ||
| ENST00000469391.5:c.745C>T | ENSP00000419438.1:p.Arg249Ter | |
| ENST00000483757.5:c.745C>T | ENSP00000417691.1:p.Arg249Ter | |
| ENST00000495184.5:n.810C>T | ||
| ENST00000524396.5:c.*912C>T | ENSP00000436628.1:n.*912C>T | |
| NM_001190458.1:c.745C>T | NP_001177387.1:p.Arg249Ter | |
| NM_001193536.1:c.745C>T | NP_001180465.1:p.Arg249Ter | |
| NM_203447.3:c.949C>T , LRG_196t1:c.949C>T | NP_982272.2:p.Arg317Ter | |
| XM_011518045.1:c.745C>T | XP_011516347.1:p.Arg249Ter | |
| XM_011518046.1:c.811C>T | XP_011516348.1:p.Arg271Ter | |
| XM_011518047.1:c.745C>T | XP_011516349.1:p.Arg249Ter | |
| XM_011518048.1:c.745C>T | XP_011516350.1:p.Arg249Ter | |
| XM_011518045.3:c.745C>T | XP_011516347.1:p.Arg249Ter | |
| XM_011518046.2:c.811C>T | XP_011516348.1:p.Arg271Ter | |
| XM_011518047.3:c.745C>T | XP_011516349.1:p.Arg249Ter | |
| XM_011518048.2:c.745C>T | XP_011516350.1:p.Arg249Ter | |
| XM_017015173.1:c.745C>T | XP_016870662.1:p.Arg249Ter | |
| XM_017015174.1:c.811C>T | XP_016870663.1:p.Arg271Ter | |
| NM_001190458.2:c.745C>T | NP_001177387.1:p.Arg249Ter | |
| NM_001193536.2:c.745C>T | NP_001180465.1:p.Arg249Ter | |
| NM_203447.4:c.949C>T MANE Select | NP_982272.2:p.Arg317Ter |