Linked Data
ClinVar Variation Id:
1389314
ClinVar RCV Id:
RCV001887126
dbSNP Id:
rs200742458
ExAC:
4:107016764 T / C
gnomAD v2:
4-107016764-T-C
gnomAD v3:
4-106095607-T-C
gnomAD v4:
4-106095607-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.106095607T>C , CM000666.2:g.106095607T>C | GRCh38 |
| NC_000004.11:g.107016764T>C , CM000666.1:g.107016764T>C | GRCh37 |
| NC_000004.10:g.107236213T>C | NCBI36 |
| NG_034057.2:g.230889A>G | |
| NG_034057.3:g.226077A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273980.10:c.2446A>G | ENSP00000273980.4:p.Ile816Val | |
| ENST00000394708.7:c.2446A>G MANE Select | ENSP00000378198.2:p.Ile816Val | |
| ENST00000273980.9:c.2446A>G | ENSP00000273980.4:p.Ile816Val | |
| ENST00000361687.8:c.2257A>G | ENSP00000355338.4:p.Ile753Val | |
| ENST00000394706.7:c.2329A>G | ENSP00000378196.3:p.Ile777Val | |
| ENST00000394708.6:c.2446A>G | ENSP00000378198.2:p.Ile816Val | |
| ENST00000432496.6:c.2446A>G | ENSP00000405847.2:p.Ile816Val | |
| ENST00000467183.6:c.*2085A>G | ENSP00000421182.1:n.*2085A>G | |
| ENST00000510927.5:n.2099A>G | ||
| NM_001163435.2:c.2446A>G | NP_001156907.1:p.Ile816Val | |
| NM_001163436.2:c.2446A>G | NP_001156908.1:p.Ile816Val | |
| NM_001163437.2:c.2329A>G | NP_001156909.1:p.Ile777Val | |
| NM_001290768.1:c.1930A>G | NP_001277697.1:p.Ile644Val | |
| NM_033115.4:c.2257A>G | NP_149106.2:p.Ile753Val | |
| XM_011532417.1:c.2446A>G | XP_011530719.1:p.Ile816Val | |
| XM_011532418.1:c.2128A>G | XP_011530720.1:p.Ile710Val | |
| XM_011532419.1:c.1930A>G | XP_011530721.1:p.Ile644Val | |
| XM_011532417.2:c.2446A>G | XP_011530719.1:p.Ile816Val | |
| XM_017008846.1:c.2446A>G | XP_016864335.1:p.Ile816Val | |
| XM_017008847.2:c.2446A>G | XP_016864336.1:p.Ile816Val | |
| XM_017008848.1:c.2128A>G | XP_016864337.1:p.Ile710Val | |
| XM_017008849.1:c.1930A>G | XP_016864338.1:p.Ile644Val | |
| XM_024454281.1:c.2446A>G | XP_024310049.1:p.Ile816Val | |
| XM_024454282.1:c.2446A>G | XP_024310050.1:p.Ile816Val | |
| XR_002959772.1:n.2640A>G | ||
| NM_001163435.3:c.2446A>G MANE Select | NP_001156907.2:p.Ile816Val | |
| NM_001163436.4:c.2446A>G | NP_001156908.2:p.Ile816Val | |
| NM_001163437.3:c.2329A>G | NP_001156909.2:p.Ile777Val | |
| NM_001290768.2:c.1930A>G | NP_001277697.2:p.Ile644Val | |
| NM_033115.5:c.2257A>G | NP_149106.3:p.Ile753Val |