Linked Data
ClinVar Variation Id:
542119
ClinVar RCV Id:
RCV002315976
dbSNP Id:
rs76882721
ExAC:
11:17793574 C / T
gnomAD v2:
11-17793574-C-T
gnomAD v3:
11-17772027-C-T
gnomAD v4:
11-17772027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17772027C>T , CM000673.2:g.17772027C>T | GRCh38 |
| NC_000011.9:g.17793574C>T , CM000673.1:g.17793574C>T | GRCh37 |
| NC_000011.8:g.17750150C>T | NCBI36 |
| NG_041827.1:g.41080C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265969.8:c.933C>T MANE Select | ENSP00000265969.7:p.Arg311= | |
| ENST00000379472.4:c.933C>T | ENSP00000368785.3:p.Arg311= | |
| ENST00000639325.2:c.933C>T | ENSP00000492663.2:p.Arg311= | |
| ENST00000640153.1:n.461C>T | ||
| ENST00000640318.2:c.933C>T | ENSP00000491189.2:p.Arg311= | |
| ENST00000640909.2:c.933C>T | ENSP00000491644.2:p.Arg311= | |
| ENST00000675775.1:c.933C>T | ENSP00000502716.1:p.Arg311= | |
| ENST00000265969.6:c.933C>T | ENSP00000265969.6:p.Arg311= | |
| ENST00000379472.3:c.933C>T | ENSP00000368785.3:p.Arg311= | |
| NM_001112741.1:c.933C>T | NP_001106212.1:p.Arg311= | |
| NM_004976.4:c.933C>T | NP_004967.1:p.Arg311= | |
| XM_011520078.1:c.933C>T | XP_011518380.1:p.Arg311= | |
| XM_011520079.1:c.933C>T | XP_011518381.1:p.Arg311= | |
| XM_011520080.1:c.933C>T | XP_011518382.1:p.Arg311= | |
| XM_011520081.1:c.933C>T | XP_011518383.1:p.Arg311= | |
| XR_930866.1:n.1026C>T | ||
| XR_930866.2:n.2126C>T | ||
| NM_001112741.2:c.933C>T MANE Select | NP_001106212.1:p.Arg311= |