Linked Data
ClinVar Variation Id:
77062
ClinVar RCV Id:
RCV000672273
dbSNP Id:
rs267601674
gnomAD v3:
8-99868296-T-G
gnomAD v4:
8-99868296-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868296T>G , CM000670.2:g.99868296T>G | GRCh38 |
| NC_000008.10:g.100880524T>G , CM000670.1:g.100880524T>G | GRCh37 |
| NC_000008.9:g.100949700T>G | NCBI36 |
| NG_007098.2:g.860031T>G , LRG_351:g.860031T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.*392T>G | ENSP00000507923.1:n.*392T>G | |
| ENST00000682358.1:n.11368T>G | ||
| ENST00000683334.1:c.*6980T>G | ENSP00000507369.1:n.*6980T>G | |
| ENST00000357162.7:c.11223T>G MANE Select | ENSP00000349685.2:p.Ile3741Met | |
| ENST00000358544.7:c.11298T>G MANE Plus Clinical | ENSP00000351346.2:p.Ile3766Met | |
| ENST00000357162.6:c.11223T>G | ENSP00000349685.2:p.Ile3741Met | |
| ENST00000358544.6:c.11298T>G | ENSP00000351346.2:p.Ile3766Met | |
| ENST00000493587.1:n.240T>G | ||
| NM_017890.4:c.11298T>G , LRG_351t1:c.11298T>G | NP_060360.3:p.Ile3766Met | |
| NM_152564.4:c.11223T>G , LRG_351t2:c.11223T>G | NP_689777.3:p.Ile3741Met | |
| XM_005250800.2:c.11298T>G | XP_005250857.1:p.Ile3766Met | |
| XM_005250801.3:c.11298T>G | XP_005250858.1:p.Ile3766Met | |
| XM_011516848.1:c.11295T>G | XP_011515150.1:p.Ile3765Met | |
| XM_011516849.1:c.11220T>G | XP_011515151.1:p.Ile3740Met | |
| XM_011516850.1:c.10920T>G | XP_011515152.1:p.Ile3640Met | |
| XM_011516851.1:c.8184T>G | XP_011515153.1:p.Ile2728Met | |
| XM_011516852.1:c.8184T>G | XP_011515154.1:p.Ile2728Met | |
| XM_011516854.1:c.7077T>G | XP_011515156.1:p.Ile2359Met | |
| XM_005250800.3:c.11298T>G | XP_005250857.1:p.Ile3766Met | |
| XM_005250801.5:c.11298T>G | XP_005250858.1:p.Ile3766Met | |
| XM_011516848.2:c.11295T>G | XP_011515150.1:p.Ile3765Met | |
| XM_011516849.2:c.11220T>G | XP_011515151.1:p.Ile3740Met | |
| XM_011516850.2:c.10920T>G | XP_011515152.1:p.Ile3640Met | |
| XM_011516851.2:c.8184T>G | XP_011515153.1:p.Ile2728Met | |
| XM_011516852.2:c.8184T>G | XP_011515154.1:p.Ile2728Met | |
| XM_011516854.2:c.7077T>G | XP_011515156.1:p.Ile2359Met | |
| XM_017013109.1:c.11103T>G | XP_016868598.1:p.Ile3701Met | |
| XM_017013111.1:c.8184T>G | XP_016868600.1:p.Ile2728Met | |
| XM_017013112.1:c.6855T>G | XP_016868601.1:p.Ile2285Met | |
| XM_024447074.1:c.10083T>G | XP_024302842.1:p.Ile3361Met | |
| NM_017890.5:c.11298T>G MANE Plus Clinical | NP_060360.3:p.Ile3766Met | |
| NM_152564.5:c.11223T>G MANE Select | NP_689777.3:p.Ile3741Met |