Linked Data
ClinVar Variation Id:
695673
dbSNP Id:
rs189619298
ExAC:
3:14190332 T / G
gnomAD v2:
3-14190332-T-G
gnomAD v3:
3-14148832-T-G
gnomAD v4:
3-14148832-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148832T>G , CM000665.2:g.14148832T>G | GRCh38 |
| NC_000003.11:g.14190332T>G , CM000665.1:g.14190332T>G | GRCh37 |
| NC_000003.10:g.14165333T>G | NCBI36 |
| NG_011763.1:g.34841A>C , LRG_472:g.34841A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2232A>C MANE Select | ENSP00000285021.8:p.Pro744= | |
| ENST00000285021.11:c.2232A>C | ENSP00000285021.7:p.Pro744= | |
| ENST00000427795.2:n.97A>C | ||
| ENST00000476581.6:c.*1685A>C | ENSP00000424548.1:n.*1685A>C | |
| NM_004628.4:c.2232A>C , LRG_472t1:c.2232A>C | NP_004619.3:p.Pro744= | |
| NR_027299.1:n.2212A>C | ||
| XM_011534092.1:c.2232A>C | XP_011532394.1:p.Pro744= | |
| NM_001354726.1:c.1653A>C | NP_001341655.1:p.Pro551= | |
| NM_001354727.1:c.2226A>C | NP_001341656.1:p.Pro742= | |
| NM_001354729.1:c.2214A>C | NP_001341658.1:p.Pro738= | |
| NM_001354730.1:c.1986A>C | NP_001341659.1:p.Pro662= | |
| NR_148950.1:n.2175A>C | ||
| NR_148951.1:n.2051A>C | ||
| XR_001740256.2:n.2265A>C | ||
| XR_002959580.1:n.2265A>C | ||
| XR_002959581.1:n.3882A>C | ||
| NM_001354727.2:c.2226A>C | NP_001341656.1:p.Pro742= | |
| NM_004628.5:c.2232A>C MANE Select | NP_004619.3:p.Pro744= | |
| NR_148950.2:n.2104A>C | ||
| NR_148951.2:n.1980A>C | ||
| NM_001354726.2:c.1653A>C | NP_001341655.1:p.Pro551= | |
| NM_001354729.2:c.2214A>C | NP_001341658.1:p.Pro738= | |
| NM_001354730.2:c.1986A>C | NP_001341659.1:p.Pro662= |