Linked Data
ClinVar Variation Id:
93580
dbSNP Id:
rs144165818
ExAC:
12:7362285 T / C
gnomAD v2:
12-7362285-T-C
gnomAD v3:
12-7209689-T-C
gnomAD v4:
12-7209689-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7209689T>C , CM000674.2:g.7209689T>C | GRCh38 |
| NC_000012.11:g.7362285T>C , CM000674.1:g.7362285T>C | GRCh37 |
| NC_000012.10:g.7253552T>C | NCBI36 |
| NG_008448.1:g.25527T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675855.1:c.1567T>C MANE Select | ENSP00000502374.1:p.Leu523= | |
| ENST00000266563.9:c.1456T>C | ENSP00000266563.5:p.Leu486= | |
| ENST00000266564.7:c.1543T>C | ENSP00000266564.3:p.Leu515= | |
| ENST00000412720.6:c.1630T>C | ENSP00000391601.2:p.Leu544= | |
| ENST00000420616.6:c.1567T>C | ENSP00000410159.2:p.Leu523= | |
| ENST00000434354.6:c.1612T>C | ENSP00000407401.2:p.Leu538= | |
| ENST00000455147.6:c.1567T>C | ENSP00000400647.2:p.Leu523= | |
| NM_000319.4:c.1543T>C | NP_000310.2:p.Leu515= | |
| NM_001131023.1:c.1612T>C | NP_001124495.1:p.Leu538= | |
| NM_001131024.1:c.1456T>C | NP_001124496.1:p.Leu486= | |
| NM_001131025.1:c.1567T>C | NP_001124497.1:p.Leu523= | |
| NM_001131026.1:c.1567T>C | NP_001124498.1:p.Leu523= | |
| NM_001300789.1:c.1630T>C | NP_001287718.1:p.Leu544= | |
| XM_005253455.1:c.1519T>C | XP_005253512.1:p.Leu507= | |
| XM_011520793.1:c.1675T>C | XP_011519095.1:p.Leu559= | |
| XM_011520794.1:c.1675T>C | XP_011519096.1:p.Leu559= | |
| XM_011520795.1:c.1612T>C | XP_011519097.1:p.Leu538= | |
| XM_011520796.1:c.1612T>C | XP_011519098.1:p.Leu538= | |
| XM_011520797.1:c.1567T>C | XP_011519099.1:p.Leu523= | |
| XM_011520798.1:c.1567T>C | XP_011519100.1:p.Leu523= | |
| XM_011520799.1:c.1567T>C | XP_011519101.1:p.Leu523= | |
| XM_011520800.1:c.1567T>C | XP_011519102.1:p.Leu523= | |
| XM_011520801.1:c.1564T>C | XP_011519103.1:p.Leu522= | |
| XM_011520802.1:c.1318T>C | XP_011519104.1:p.Leu440= | |
| NM_001351124.1:c.1456T>C | NP_001338053.1:p.Leu486= | |
| NM_001351126.1:c.1456T>C | NP_001338055.1:p.Leu486= | |
| NM_001351127.1:c.1456T>C | NP_001338056.1:p.Leu486= | |
| NM_001351128.1:c.1456T>C | NP_001338057.1:p.Leu486= | |
| NM_001351130.1:c.1456T>C | NP_001338059.1:p.Leu486= | |
| NM_001351131.1:c.1567T>C | NP_001338060.1:p.Leu523= | |
| NM_001351132.1:c.1567T>C | NP_001338061.1:p.Leu523= | |
| NM_001351133.1:c.1567T>C | NP_001338062.1:p.Leu523= | |
| NM_001351134.1:c.1567T>C | NP_001338063.1:p.Leu523= | |
| NM_001351135.1:c.1564T>C | NP_001338064.1:p.Leu522= | |
| NM_001351136.1:c.1558T>C | NP_001338065.1:p.Leu520= | |
| NM_001351137.1:c.1519T>C | NP_001338066.1:p.Leu507= | |
| NM_001351138.1:c.1501T>C | NP_001338067.1:p.Leu501= | |
| NM_001351139.1:c.1432T>C | NP_001338068.1:p.Leu478= | |
| NM_001351140.1:c.1432T>C | NP_001338069.1:p.Leu478= | |
| XM_011520793.2:c.1675T>C | XP_011519095.1:p.Leu559= | |
| XM_011520802.2:c.1318T>C | XP_011519104.1:p.Leu440= | |
| XM_017019744.1:c.2011T>C | XP_016875233.1:p.Leu671= | |
| XM_017019745.1:c.2011T>C | XP_016875234.1:p.Leu671= | |
| XM_017019746.1:c.1900T>C | XP_016875235.1:p.Leu634= | |
| XM_017019747.1:c.1876T>C | XP_016875236.1:p.Leu626= | |
| XM_017019748.1:c.1612T>C | XP_016875237.1:p.Leu538= | |
| XM_017019749.1:c.1567T>C | XP_016875238.1:p.Leu523= | |
| XM_017019750.1:c.1543T>C | XP_016875239.1:p.Leu515= | |
| XR_001748833.1:n.2053T>C | ||
| NM_000319.5:c.1543T>C | NP_000310.2:p.Leu515= | |
| NM_001131023.2:c.1612T>C | NP_001124495.1:p.Leu538= | |
| NM_001131024.2:c.1456T>C | NP_001124496.1:p.Leu486= | |
| NM_001131025.2:c.1567T>C | NP_001124497.1:p.Leu523= | |
| NM_001131026.2:c.1567T>C | NP_001124498.1:p.Leu523= | |
| NM_001300789.3:c.1567T>C | NP_001287718.2:p.Leu523= | |
| NM_001351124.3:c.1456T>C | NP_001338053.1:p.Leu486= | |
| NM_001351126.2:c.1456T>C | NP_001338055.1:p.Leu486= | |
| NM_001351127.2:c.1456T>C | NP_001338056.1:p.Leu486= | |
| NM_001351128.2:c.1456T>C | NP_001338057.1:p.Leu486= | |
| NM_001351130.3:c.1456T>C | NP_001338059.1:p.Leu486= | |
| NM_001351131.2:c.1567T>C | NP_001338060.1:p.Leu523= | |
| NM_001351132.2:c.1567T>C MANE Select | NP_001338061.1:p.Leu523= | |
| NM_001351133.2:c.1567T>C | NP_001338062.1:p.Leu523= | |
| NM_001351134.2:c.1567T>C | NP_001338063.1:p.Leu523= | |
| NM_001351135.3:c.1501T>C | NP_001338064.2:p.Leu501= | |
| NM_001351136.2:c.1558T>C | NP_001338065.1:p.Leu520= | |
| NM_001351137.3:c.1456T>C | NP_001338066.2:p.Leu486= | |
| NM_001351138.2:c.1501T>C | NP_001338067.1:p.Leu501= | |
| NM_001351139.2:c.1432T>C | NP_001338068.1:p.Leu478= | |
| NM_001351140.2:c.1432T>C | NP_001338069.1:p.Leu478= | |
| NM_001374645.1:c.1456T>C | NP_001361574.1:p.Leu486= | |
| NM_001374646.1:c.1456T>C | NP_001361575.1:p.Leu486= | |
| NM_001374647.2:c.1567T>C | NP_001361576.1:p.Leu523= | |
| NM_001374648.2:c.1456T>C | NP_001361577.1:p.Leu486= | |
| NM_001374649.2:c.1432T>C | NP_001361578.1:p.Leu478= |