Linked Data
ClinVar Variation Id:
192116
dbSNP Id:
rs201964660
gnomAD v4:
6-7580224-A-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7580224A>C , CM000668.2:g.7580224A>C | GRCh38 |
| NC_000006.11:g.7580457A>C , CM000668.1:g.7580457A>C | GRCh37 |
| NC_000006.10:g.7525456A>C | NCBI36 |
| NG_008803.1:g.43588A>C , LRG_423:g.43588A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4034A>C | ENSP00000518230.1:p.Glu1345Ala | |
| ENST00000379802.8:c.4034A>C MANE Select | ENSP00000369129.3:p.Glu1345Ala | |
| ENST00000379802.7:c.4034A>C | ENSP00000369129.3:p.Glu1345Ala | |
| ENST00000418664.2:c.3582+452A>C | ENSP00000396591.2:n.3582+452A>C | |
| NM_001008844.1:c.3582+452A>C | NP_001008844.1:n.3582+452A>C | |
| NM_004415.2:c.4034A>C , LRG_423t1:c.4034A>C | NP_004406.2:p.Glu1345Ala | |
| XM_011514323.1:c.4034A>C | XP_011512625.1:p.Glu1345Ala | |
| NM_001008844.2:c.3582+452A>C | NP_001008844.1:n.3582+452A>C | |
| NM_001319034.1:c.4034A>C | NP_001305963.1:p.Glu1345Ala | |
| NM_004415.3:c.4034A>C | NP_004406.2:p.Glu1345Ala | |
| NM_004415.4:c.4034A>C MANE Select | NP_004406.2:p.Glu1345Ala | |
| NM_001008844.3:c.3582+452A>C | NP_001008844.1:n.3582+452A>C | |
| NM_001319034.2:c.4034A>C | NP_001305963.1:p.Glu1345Ala |