Linked Data
ClinVar Variation Id:
93318
dbSNP Id:
rs398123478
ExAC:
11:6415565 C / T
gnomAD v2:
11-6415565-C-T
gnomAD v3:
11-6394335-C-T
gnomAD v4:
11-6394335-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394335C>T , CM000673.2:g.6394335C>T | GRCh38 |
| NC_000011.9:g.6415565C>T , CM000673.1:g.6415565C>T | GRCh37 |
| NC_000011.8:g.6372141C>T | NCBI36 |
| NG_011780.1:g.8911C>T | |
| NG_029615.1:g.30080G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.1624C>T MANE Select | ENSP00000340409.4:p.Arg542Ter | |
| ENST00000342245.8:c.1624C>T | ENSP00000340409.4:p.Arg542Ter | |
| ENST00000526280.1:c.681C>T | ||
| ENST00000527275.5:c.1621C>T | ENSP00000435350.1:p.Arg541Ter | |
| ENST00000531303.5:c.*475C>T | ENSP00000432625.1:n.*475C>T | |
| ENST00000531336.1:n.612C>T | ||
| ENST00000533123.5:c.*351C>T | ENSP00000435950.1:n.*351C>T | |
| ENST00000534405.5:c.*455C>T | ENSP00000434353.1:n.*455C>T | |
| NM_000543.4:c.1624C>T | NP_000534.3:p.Arg542Ter | |
| NM_001007593.2:c.1621C>T | NP_001007594.2:p.Arg541Ter | |
| XM_005253075.3:c.*117C>T | XP_005253132.1:n.*117C>T | |
| XM_011520303.1:c.1492C>T | XP_011518605.1:p.Arg498Ter | |
| XM_011520304.1:c.*117C>T | XP_011518606.1:n.*117C>T | |
| NM_001318087.1:c.*117C>T | NP_001305016.1:n.*117C>T | |
| NM_001318088.1:c.703C>T | NP_001305017.1:p.Arg235Ter | |
| NM_001365135.1:c.1492C>T | NP_001352064.1:p.Arg498Ter | |
| NR_027400.2:n.1637C>T | ||
| NR_134502.1:n.1176C>T | ||
| XM_011520304.2:c.*117C>T | XP_011518606.1:n.*117C>T | |
| XR_001747940.2:n.1809C>T | ||
| XR_002957158.1:n.1991C>T | ||
| NM_000543.5:c.1624C>T MANE Select | NP_000534.3:p.Arg542Ter | |
| NM_001007593.3:c.1621C>T | NP_001007594.2:p.Arg541Ter | |
| NM_001318087.2:c.*117C>T | NP_001305016.1:n.*117C>T | |
| NM_001318088.2:c.703C>T | NP_001305017.1:p.Arg235Ter | |
| NM_001365135.2:c.1492C>T | NP_001352064.1:p.Arg498Ter | |
| NR_027400.3:n.1577C>T | ||
| NR_134502.2:n.1116C>T |