Linked Data
ClinVar Variation Id:
167668
dbSNP Id:
rs199939108
ExAC:
20:18523799 C / T
gnomAD v2:
20-18523799-C-T
gnomAD v3:
20-18543155-C-T
gnomAD v4:
20-18543155-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18543155C>T , CM000682.2:g.18543155C>T | GRCh38 |
| NC_000020.10:g.18523799C>T , CM000682.1:g.18523799C>T | GRCh37 |
| NC_000020.9:g.18471799C>T | NCBI36 |
| NG_016281.1:g.40612C>T | |
| NG_016281.2:g.40674C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336714.8:c.1648C>T | ENSP00000338844.3:p.Arg550Ter | |
| ENST00000377465.6:c.1648C>T | ENSP00000366685.1:p.Arg550Ter | |
| ENST00000643747.1:c.1594C>T | ENSP00000496460.1:p.Arg532Ter | |
| ENST00000650089.1:c.1648C>T MANE Select | ENSP00000497473.1:p.Arg550Ter | |
| ENST00000262544.6:c.1648C>T | ENSP00000262544.2:p.Arg550Ter | |
| ENST00000336714.7:c.1648C>T | ENSP00000338844.3:p.Arg550Ter | |
| ENST00000377465.5:c.1648C>T | ENSP00000366685.1:p.Arg550Ter | |
| ENST00000377475.7:c.1648C>T | ENSP00000366695.3:p.Arg550Ter | |
| ENST00000422877.1:c.172C>T | ENSP00000409882.1:p.Arg58Ter | |
| NM_001172745.1:c.1648C>T | NP_001166216.1:p.Arg550Ter | |
| NM_001172746.1:c.1594C>T | NP_001166217.1:p.Arg532Ter | |
| NM_006363.4:c.1648C>T | NP_006354.2:p.Arg550Ter | |
| NM_032985.4:c.1648C>T | NP_116780.1:p.Arg550Ter | |
| NM_032986.3:c.1648C>T | NP_116781.1:p.Arg550Ter | |
| NM_001172745.2:c.1648C>T | NP_001166216.1:p.Arg550Ter | |
| NM_001172746.2:c.1594C>T | NP_001166217.1:p.Arg532Ter | |
| NM_006363.6:c.1648C>T MANE Select | NP_006354.2:p.Arg550Ter | |
| NM_032985.5:c.1648C>T | NP_116780.1:p.Arg550Ter | |
| NM_032986.4:c.1648C>T | NP_116781.1:p.Arg550Ter | |
| XM_017027593.1:c.1648C>T | XP_016883082.1:p.Arg550Ter | |
| NM_001172745.3:c.1648C>T | NP_001166216.1:p.Arg550Ter | |
| NM_001172746.3:c.1594C>T | NP_001166217.1:p.Arg532Ter | |
| NM_032985.6:c.1648C>T | NP_116780.1:p.Arg550Ter | |
| NM_032986.5:c.1648C>T | NP_116781.1:p.Arg550Ter |