Linked Data
ClinVar Variation Id:
310430
dbSNP Id:
rs200215904
ExAC:
12:7362371 C / G
gnomAD v2:
12-7362371-C-G
gnomAD v3:
12-7209775-C-G
gnomAD v4:
12-7209775-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7209775C>G , CM000674.2:g.7209775C>G | GRCh38 |
| NC_000012.11:g.7362371C>G , CM000674.1:g.7362371C>G | GRCh37 |
| NC_000012.10:g.7253638C>G | NCBI36 |
| NG_008448.1:g.25613C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675855.1:c.1653C>G MANE Select | ENSP00000502374.1:p.Leu551= | |
| ENST00000266563.9:c.1542C>G | ENSP00000266563.5:p.Leu514= | |
| ENST00000266564.7:c.1629C>G | ENSP00000266564.3:p.Leu543= | |
| ENST00000412720.6:c.1716C>G | ENSP00000391601.2:p.Leu572= | |
| ENST00000420616.6:c.1653C>G | ENSP00000410159.2:p.Leu551= | |
| ENST00000434354.6:c.1698C>G | ENSP00000407401.2:p.Leu566= | |
| ENST00000455147.6:c.1653C>G | ENSP00000400647.2:p.Leu551= | |
| NM_000319.4:c.1629C>G | NP_000310.2:p.Leu543= | |
| NM_001131023.1:c.1698C>G | NP_001124495.1:p.Leu566= | |
| NM_001131024.1:c.1542C>G | NP_001124496.1:p.Leu514= | |
| NM_001131025.1:c.1653C>G | NP_001124497.1:p.Leu551= | |
| NM_001131026.1:c.1653C>G | NP_001124498.1:p.Leu551= | |
| NM_001300789.1:c.1716C>G | NP_001287718.1:p.Leu572= | |
| XM_005253455.1:c.1605C>G | XP_005253512.1:p.Leu535= | |
| XM_011520793.1:c.1761C>G | XP_011519095.1:p.Leu587= | |
| XM_011520794.1:c.1761C>G | XP_011519096.1:p.Leu587= | |
| XM_011520795.1:c.1698C>G | XP_011519097.1:p.Leu566= | |
| XM_011520796.1:c.1698C>G | XP_011519098.1:p.Leu566= | |
| XM_011520797.1:c.1653C>G | XP_011519099.1:p.Leu551= | |
| XM_011520798.1:c.1653C>G | XP_011519100.1:p.Leu551= | |
| XM_011520799.1:c.1653C>G | XP_011519101.1:p.Leu551= | |
| XM_011520800.1:c.1653C>G | XP_011519102.1:p.Leu551= | |
| XM_011520801.1:c.1650C>G | XP_011519103.1:p.Leu550= | |
| XM_011520802.1:c.1404C>G | XP_011519104.1:p.Leu468= | |
| NM_001351124.1:c.1542C>G | NP_001338053.1:p.Leu514= | |
| NM_001351126.1:c.1542C>G | NP_001338055.1:p.Leu514= | |
| NM_001351127.1:c.1542C>G | NP_001338056.1:p.Leu514= | |
| NM_001351128.1:c.1542C>G | NP_001338057.1:p.Leu514= | |
| NM_001351130.1:c.1542C>G | NP_001338059.1:p.Leu514= | |
| NM_001351131.1:c.1653C>G | NP_001338060.1:p.Leu551= | |
| NM_001351132.1:c.1653C>G | NP_001338061.1:p.Leu551= | |
| NM_001351133.1:c.1653C>G | NP_001338062.1:p.Leu551= | |
| NM_001351134.1:c.1653C>G | NP_001338063.1:p.Leu551= | |
| NM_001351135.1:c.1650C>G | NP_001338064.1:p.Leu550= | |
| NM_001351136.1:c.1644C>G | NP_001338065.1:p.Leu548= | |
| NM_001351137.1:c.1605C>G | NP_001338066.1:p.Leu535= | |
| NM_001351138.1:c.1587C>G | NP_001338067.1:p.Leu529= | |
| NM_001351139.1:c.1518C>G | NP_001338068.1:p.Leu506= | |
| NM_001351140.1:c.1518C>G | NP_001338069.1:p.Leu506= | |
| XM_011520793.2:c.1761C>G | XP_011519095.1:p.Leu587= | |
| XM_011520802.2:c.1404C>G | XP_011519104.1:p.Leu468= | |
| XM_017019744.1:c.2097C>G | XP_016875233.1:p.Leu699= | |
| XM_017019745.1:c.2097C>G | XP_016875234.1:p.Leu699= | |
| XM_017019746.1:c.1986C>G | XP_016875235.1:p.Leu662= | |
| XM_017019747.1:c.1962C>G | XP_016875236.1:p.Leu654= | |
| XM_017019748.1:c.1698C>G | XP_016875237.1:p.Leu566= | |
| XM_017019749.1:c.1653C>G | XP_016875238.1:p.Leu551= | |
| XM_017019750.1:c.1629C>G | XP_016875239.1:p.Leu543= | |
| XR_001748833.1:n.2139C>G | ||
| NM_000319.5:c.1629C>G | NP_000310.2:p.Leu543= | |
| NM_001131023.2:c.1698C>G | NP_001124495.1:p.Leu566= | |
| NM_001131024.2:c.1542C>G | NP_001124496.1:p.Leu514= | |
| NM_001131025.2:c.1653C>G | NP_001124497.1:p.Leu551= | |
| NM_001131026.2:c.1653C>G | NP_001124498.1:p.Leu551= | |
| NM_001300789.3:c.1653C>G | NP_001287718.2:p.Leu551= | |
| NM_001351124.3:c.1542C>G | NP_001338053.1:p.Leu514= | |
| NM_001351126.2:c.1542C>G | NP_001338055.1:p.Leu514= | |
| NM_001351127.2:c.1542C>G | NP_001338056.1:p.Leu514= | |
| NM_001351128.2:c.1542C>G | NP_001338057.1:p.Leu514= | |
| NM_001351130.3:c.1542C>G | NP_001338059.1:p.Leu514= | |
| NM_001351131.2:c.1653C>G | NP_001338060.1:p.Leu551= | |
| NM_001351132.2:c.1653C>G MANE Select | NP_001338061.1:p.Leu551= | |
| NM_001351133.2:c.1653C>G | NP_001338062.1:p.Leu551= | |
| NM_001351134.2:c.1653C>G | NP_001338063.1:p.Leu551= | |
| NM_001351135.3:c.1587C>G | NP_001338064.2:p.Leu529= | |
| NM_001351136.2:c.1644C>G | NP_001338065.1:p.Leu548= | |
| NM_001351137.3:c.1542C>G | NP_001338066.2:p.Leu514= | |
| NM_001351138.2:c.1587C>G | NP_001338067.1:p.Leu529= | |
| NM_001351139.2:c.1518C>G | NP_001338068.1:p.Leu506= | |
| NM_001351140.2:c.1518C>G | NP_001338069.1:p.Leu506= | |
| NM_001374645.1:c.1542C>G | NP_001361574.1:p.Leu514= | |
| NM_001374646.1:c.1542C>G | NP_001361575.1:p.Leu514= | |
| NM_001374647.2:c.1653C>G | NP_001361576.1:p.Leu551= | |
| NM_001374648.2:c.1542C>G | NP_001361577.1:p.Leu514= | |
| NM_001374649.2:c.1518C>G | NP_001361578.1:p.Leu506= |