Linked Data
ClinVar Variation Id:
304473
dbSNP Id:
rs497582
ExAC:
11:34991727 T / C
gnomAD v2:
11-34991727-T-C
gnomAD v3:
11-34970180-T-C
gnomAD v4:
11-34970180-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34970180T>C , CM000673.2:g.34970180T>C | GRCh38 |
| NC_000011.9:g.34991727T>C , CM000673.1:g.34991727T>C | GRCh37 |
| NC_000011.8:g.34948303T>C | NCBI36 |
| NG_013368.1:g.59051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448838.8:c.678T>C | ENSP00000389404.3:p.Val226= | |
| ENST00000227868.9:c.858T>C MANE Select | ENSP00000227868.4:p.Val286= | |
| ENST00000227868.8:c.858T>C | ENSP00000227868.4:p.Val286= | |
| ENST00000430469.6:c.343-14390T>C | ENSP00000415695.2:n.343-14390T>C | |
| ENST00000448838.7:c.813T>C | ENSP00000389404.2:p.Val271= | |
| NM_001135024.1:c.813T>C | NP_001128496.1:p.Val271= | |
| NM_001166158.1:c.343-14390T>C | NP_001159630.1:n.343-14390T>C | |
| NM_003477.2:c.858T>C | NP_003468.2:p.Val286= | |
| XM_011520390.1:c.678T>C | XP_011518692.1:p.Val226= | |
| NM_003477.3:c.858T>C MANE Select | NP_003468.2:p.Val286= | |
| NM_001135024.2:c.678T>C | NP_001128496.2:p.Val226= | |
| NM_001166158.2:c.343-14390T>C | NP_001159630.1:n.343-14390T>C |