Linked Data
ClinVar Variation Id:
2408050
ClinVar RCV Id:
RCV002779222
dbSNP Id:
rs1662082908
gnomAD v4:
1-226895492-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226895492C>G , CM000663.2:g.226895492C>G | GRCh38 |
| NC_000001.10:g.227083193C>G , CM000663.1:g.227083193C>G | GRCh37 |
| NC_000001.9:g.225149816C>G | NCBI36 |
| NG_007381.1:g.29921C>G | |
| NG_012825.2:g.2957C>G | |
| NG_007381.2:g.30309C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.1260C>G | ENSP00000355741.2:p.Ile420Met | |
| ENST00000366782.6:c.1260C>G | ENSP00000355746.2:p.Ile420Met | |
| ENST00000366783.8:c.1260C>G MANE Select | ENSP00000355747.3:p.Ile420Met | |
| ENST00000471728.2:n.1898C>G | ||
| ENST00000524196.6:c.1260C>G | ENSP00000429036.2:p.Ile420Met | |
| ENST00000626989.3:c.1260C>G | ENSP00000486498.2:p.Ile420Met | |
| ENST00000676467.1:c.*1087C>G | ENSP00000504294.1:n.*1087C>G | |
| ENST00000676747.1:c.1188+1367C>G | ENSP00000503244.1:n.1188+1367C>G | |
| ENST00000676884.1:c.1260C>G | ENSP00000503200.1:p.Ile420Met | |
| ENST00000676888.1:c.*601C>G | ENSP00000504483.1:n.*601C>G | |
| ENST00000676907.1:c.*839C>G | ENSP00000504410.1:n.*839C>G | |
| ENST00000676945.1:c.1191+1367C>G | ENSP00000504433.1:n.1191+1367C>G | |
| ENST00000677065.1:n.1821C>G | ||
| ENST00000677414.1:c.1260C>G | ENSP00000503116.1:p.Ile420Met | |
| ENST00000677529.1:n.2990C>G | ||
| ENST00000677596.1:c.*1482C>G | ENSP00000503618.1:n.*1482C>G | |
| ENST00000677599.1:c.1191+1367C>G | ENSP00000503673.1:n.1191+1367C>G | |
| ENST00000677748.1:n.3515C>G | ||
| ENST00000677880.1:c.825C>G | ENSP00000503121.1:p.Ile275Met | |
| ENST00000678021.1:c.*883C>G | ENSP00000504674.1:n.*883C>G | |
| ENST00000678233.1:c.1260C>G | ENSP00000504728.1:p.Ile420Met | |
| ENST00000678320.1:c.1161C>G | ENSP00000503680.1:p.Ile387Met | |
| ENST00000678655.1:c.1092+1367C>G | ENSP00000504230.1:n.1092+1367C>G | |
| ENST00000678706.1:c.*637C>G | ENSP00000503659.1:n.*637C>G | |
| ENST00000678776.1:c.*1397C>G | ENSP00000504624.1:n.*1397C>G | |
| ENST00000678784.1:c.1073-2228C>G | ENSP00000504652.1:n.1073-2228C>G | |
| ENST00000678820.1:c.1089+1367C>G | ENSP00000504138.1:n.1089+1367C>G | |
| ENST00000678835.1:c.*757-2228C>G | ENSP00000504343.1:n.*757-2228C>G | |
| ENST00000679088.1:c.1260C>G | ENSP00000504727.1:p.Ile420Met | |
| ENST00000679098.1:c.1260C>G | ENSP00000504303.1:p.Ile420Met | |
| ENST00000366782.5:c.1359C>G | ENSP00000355746.1:p.Ile453Met | |
| ENST00000366783.7:c.1260C>G | ENSP00000355747.3:p.Ile420Met | |
| ENST00000422240.6:c.1257C>G | ENSP00000403737.2:p.Ile419Met | |
| ENST00000471728.1:n.518C>G | ||
| ENST00000472139.2:c.828C>G | ENSP00000427806.1:p.Ile276Met | |
| ENST00000626989.2:c.1359C>G | ENSP00000486498.1:p.Ile453Met | |
| NM_000447.2:c.1260C>G | NP_000438.2:p.Ile420Met | |
| NM_012486.2:c.1257C>G | NP_036618.2:p.Ile419Met | |
| XM_005273199.2:c.1260C>G | XP_005273256.1:p.Ile420Met | |
| XM_011544236.1:c.828C>G | XP_011542538.1:p.Ile276Met | |
| XR_949149.1:n.1994C>G | ||
| XM_005273199.4:c.1260C>G | XP_005273256.1:p.Ile420Met | |
| XM_017001835.1:c.1260C>G | XP_016857324.1:p.Ile420Met | |
| XM_017001836.1:c.1257C>G | XP_016857325.1:p.Ile419Met | |
| XR_001737316.2:n.1478-2228C>G | ||
| XR_001737317.2:n.1478-2228C>G | ||
| XR_001737318.2:n.1975C>G | ||
| XR_001737319.1:n.2318C>G | ||
| XR_001737320.1:n.2315C>G | ||
| XR_001737321.1:n.1810C>G | ||
| XR_949149.2:n.1972C>G | ||
| XR_949150.3:n.2191C>G | ||
| NM_000447.3:c.1260C>G MANE Select | NP_000438.2:p.Ile420Met | |
| NM_012486.3:c.1257C>G | NP_036618.2:p.Ile419Met |