Linked Data
ClinVar Variation Id:
288211
dbSNP Id:
rs150788130
ExAC:
11:67818238 C / T
gnomAD v2:
11-67818238-C-T
gnomAD v3:
11-68050771-C-T
gnomAD v4:
11-68050771-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68050771C>T , CM000673.2:g.68050771C>T | GRCh38 |
| NC_000011.9:g.67818238C>T , CM000673.1:g.67818238C>T | GRCh37 |
| NC_000011.8:g.67574814C>T | NCBI36 |
| NG_007878.1:g.16756C>T , LRG_115:g.16756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.1974C>T | ENSP00000513629.1:p.Gly658= | |
| ENST00000698255.1:c.2394C>T | ENSP00000513630.1:p.Gly798= | |
| ENST00000698257.1:n.1863C>T | ||
| ENST00000698258.1:n.1580C>T | ||
| ENST00000265686.8:c.2445C>T MANE Select | ENSP00000265686.3:p.Gly815= | |
| ENST00000265686.7:c.2445C>T | ENSP00000265686.3:p.Gly815= | |
| ENST00000525724.5:n.1757C>T | ||
| ENST00000530063.1:c.170C>T | ENSP00000432957.1:p.Ala57Val | |
| ENST00000530802.1:n.173C>T | ||
| ENST00000532635.5:c.1797C>T | ENSP00000434407.1:p.Gly599= | |
| ENST00000533005.5:n.1558C>T | ||
| NM_006019.3:c.2445C>T | NP_006010.2:p.Gly815= | |
| NM_006053.3:c.1797C>T | NP_006044.1:p.Gly599= | |
| XM_005273709.2:c.2445C>T | XP_005273766.1:p.Gly815= | |
| XM_011544726.1:c.2445C>T | XP_011543028.1:p.Gly815= | |
| XM_011544727.1:c.2267C>T | XP_011543029.1:p.Ala756Val | |
| NM_001351059.1:c.1551C>T | NP_001337988.1:p.Gly517= | |
| XM_024448320.1:c.2538C>T | XP_024304088.1:p.Gly846= | |
| XM_024448321.1:c.2538C>T | XP_024304089.1:p.Gly846= | |
| XM_024448322.1:c.2538C>T | XP_024304090.1:p.Gly846= | |
| XM_024448323.1:c.*32+71C>T | XP_024304091.1:n.*32+71C>T | |
| XR_001747721.2:n.2614C>T | ||
| XR_001747722.1:n.2582C>T | ||
| XR_001747723.2:n.2627C>T | ||
| XR_002957115.1:n.2803C>T | ||
| NM_006019.4:c.2445C>T MANE Select | NP_006010.2:p.Gly815= | |
| NM_001351059.2:c.1551C>T | NP_001337988.1:p.Gly517= | |
| NM_006053.4:c.1797C>T | NP_006044.1:p.Gly599= |