Linked Data
dbSNP Id:
rs748776167
ExAC:
11:67815265 G / T
gnomAD v2:
11-67815265-G-T
gnomAD v3:
11-68047798-G-T
gnomAD v4:
11-68047798-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047798G>T , CM000673.2:g.68047798G>T | GRCh38 |
| NC_000011.9:g.67815265G>T , CM000673.1:g.67815265G>T | GRCh37 |
| NC_000011.8:g.67571841G>T | NCBI36 |
| NG_007878.1:g.13783G>T , LRG_115:g.13783G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.82G>T | ||
| ENST00000698254.1:c.986G>T | ENSP00000513629.1:p.Gly329Val | |
| ENST00000698255.1:c.1406G>T | ENSP00000513630.1:p.Gly469Val | |
| ENST00000698256.1:c.923G>T | ||
| ENST00000698257.1:n.875G>T | ||
| ENST00000698258.1:n.515G>T | ||
| ENST00000698259.1:n.281G>T | ||
| ENST00000265686.8:c.1457G>T MANE Select | ENSP00000265686.3:p.Gly486Val | |
| ENST00000265686.7:c.1457G>T | ENSP00000265686.3:p.Gly486Val | |
| ENST00000525516.1:n.251G>T | ||
| ENST00000525724.5:n.769G>T | ||
| ENST00000528981.5:c.609G>T | ||
| ENST00000529364.1:c.868G>T | ||
| ENST00000532635.5:c.809G>T | ENSP00000434407.1:p.Gly270Val | |
| ENST00000533005.5:n.493G>T | ||
| NM_006019.3:c.1457G>T | NP_006010.2:p.Gly486Val | |
| NM_006053.3:c.809G>T | NP_006044.1:p.Gly270Val | |
| XM_005273709.2:c.1457G>T | XP_005273766.1:p.Gly486Val | |
| XM_011544726.1:c.1457G>T | XP_011543028.1:p.Gly486Val | |
| XM_011544727.1:c.1457G>T | XP_011543029.1:p.Gly486Val | |
| XM_011544728.1:c.1457G>T | XP_011543030.1:p.Gly486Val | |
| XM_011544729.1:c.1473G>T | XP_011543031.1:p.Trp491Cys | |
| XR_949754.1:n.1461G>T | ||
| NM_001351059.1:c.563G>T | NP_001337988.1:p.Gly188Val | |
| XM_024448320.1:c.1473G>T | XP_024304088.1:p.Trp491Cys | |
| XM_024448321.1:c.1473G>T | XP_024304089.1:p.Trp491Cys | |
| XM_024448322.1:c.1473G>T | XP_024304090.1:p.Trp491Cys | |
| XM_024448323.1:c.1473G>T | XP_024304091.1:p.Trp491Cys | |
| XM_024448324.1:c.1473G>T | XP_024304092.1:p.Trp491Cys | |
| XR_001747721.2:n.1581G>T | ||
| XR_001747722.1:n.1594G>T | ||
| XR_001747723.2:n.1594G>T | ||
| XR_002957115.1:n.1595G>T | ||
| NM_006019.4:c.1457G>T MANE Select | NP_006010.2:p.Gly486Val | |
| NM_001351059.2:c.563G>T | NP_001337988.1:p.Gly188Val | |
| NM_006053.4:c.809G>T | NP_006044.1:p.Gly270Val |