Linked Data
ClinVar Variation Id:
497920
dbSNP Id:
rs145718040
ExAC:
11:67817648 C / T
gnomAD v2:
11-67817648-C-T
gnomAD v3:
11-68050181-C-T
gnomAD v4:
11-68050181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68050181C>T , CM000673.2:g.68050181C>T | GRCh38 |
| NC_000011.9:g.67817648C>T , CM000673.1:g.67817648C>T | GRCh37 |
| NC_000011.8:g.67574224C>T | NCBI36 |
| NG_007878.1:g.16166C>T , LRG_115:g.16166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.1156C>T | ||
| ENST00000698254.1:c.1692C>T | ENSP00000513629.1:p.Ile564= | |
| ENST00000698255.1:c.2112C>T | ENSP00000513630.1:p.Ile704= | |
| ENST00000698256.1:c.1629C>T | ||
| ENST00000698257.1:n.1581C>T | ||
| ENST00000698258.1:n.1298C>T | ||
| ENST00000698259.1:n.1432C>T | ||
| ENST00000265686.8:c.2163C>T MANE Select | ENSP00000265686.3:p.Ile721= | |
| ENST00000265686.7:c.2163C>T | ENSP00000265686.3:p.Ile721= | |
| ENST00000524870.1:n.791C>T | ||
| ENST00000525724.5:n.1475C>T | ||
| ENST00000530063.1:c.66C>T | ENSP00000432957.1:p.Ile22= | |
| ENST00000530449.1:n.59C>T | ||
| ENST00000532635.5:c.1515C>T | ENSP00000434407.1:p.Ile505= | |
| ENST00000533005.5:n.1276C>T | ||
| NM_006019.3:c.2163C>T | NP_006010.2:p.Ile721= | |
| NM_006053.3:c.1515C>T | NP_006044.1:p.Ile505= | |
| XM_005273709.2:c.2163C>T | XP_005273766.1:p.Ile721= | |
| XM_011544726.1:c.2163C>T | XP_011543028.1:p.Ile721= | |
| XM_011544727.1:c.2163C>T | XP_011543029.1:p.Ile721= | |
| XR_949754.1:n.2310C>T | ||
| NM_001351059.1:c.1269C>T | NP_001337988.1:p.Ile423= | |
| XM_024448320.1:c.2256C>T | XP_024304088.1:p.Ile752= | |
| XM_024448321.1:c.2256C>T | XP_024304089.1:p.Ile752= | |
| XM_024448322.1:c.2256C>T | XP_024304090.1:p.Ile752= | |
| XM_024448323.1:c.2256C>T | XP_024304091.1:p.Ile752= | |
| XR_001747721.2:n.2332C>T | ||
| XR_001747722.1:n.2300C>T | ||
| XR_001747723.2:n.2345C>T | ||
| XR_002957115.1:n.2521C>T | ||
| NM_006019.4:c.2163C>T MANE Select | NP_006010.2:p.Ile721= | |
| NM_001351059.2:c.1269C>T | NP_001337988.1:p.Ile423= | |
| NM_006053.4:c.1515C>T | NP_006044.1:p.Ile505= |