Linked Data
ClinVar Variation Id:
305788
dbSNP Id:
rs779281265
ExAC:
11:67810958 C / G
gnomAD v2:
11-67810958-C-G
gnomAD v3:
11-68043491-C-G
gnomAD v4:
11-68043491-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68043491C>G , CM000673.2:g.68043491C>G | GRCh38 |
| NC_000011.9:g.67810958C>G , CM000673.1:g.67810958C>G | GRCh37 |
| NC_000011.8:g.67567534C>G | NCBI36 |
| NG_007878.1:g.9476C>G , LRG_115:g.9476C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.403+642C>G | ENSP00000513629.1:n.403+642C>G | |
| ENST00000698255.1:c.624C>G | ENSP00000513630.1:p.Pro208= | |
| ENST00000698256.1:c.74C>G | ||
| ENST00000698257.1:n.25C>G | ||
| ENST00000265686.8:c.624C>G MANE Select | ENSP00000265686.3:p.Pro208= | |
| ENST00000265686.7:c.624C>G | ENSP00000265686.3:p.Pro208= | |
| ENST00000524598.5:c.582C>G | ENSP00000432846.1:p.Pro194= | |
| ENST00000527530.1:n.169C>G | ||
| ENST00000529364.1:c.124C>G | ||
| ENST00000529657.1:c.624C>G | ENSP00000435023.1:p.Pro208= | |
| ENST00000532635.5:c.-25C>G | ENSP00000434407.1:n.-25C>G | |
| ENST00000533947.1:n.930C>G | ||
| ENST00000534673.5:c.504-80C>G | ENSP00000431174.1:n.504-80C>G | |
| NM_006019.3:c.624C>G | NP_006010.2:p.Pro208= | |
| NM_006053.3:c.-25C>G | NP_006044.1:n.-25C>G | |
| XM_005273709.2:c.624C>G | XP_005273766.1:p.Pro208= | |
| XM_011544726.1:c.624C>G | XP_011543028.1:p.Pro208= | |
| XM_011544727.1:c.624C>G | XP_011543029.1:p.Pro208= | |
| XM_011544728.1:c.624C>G | XP_011543030.1:p.Pro208= | |
| XM_011544729.1:c.624C>G | XP_011543031.1:p.Pro208= | |
| XR_949754.1:n.628C>G | ||
| NM_001351059.1:c.-287C>G | NP_001337988.1:n.-287C>G | |
| XM_024448320.1:c.624C>G | XP_024304088.1:p.Pro208= | |
| XM_024448321.1:c.624C>G | XP_024304089.1:p.Pro208= | |
| XM_024448322.1:c.624C>G | XP_024304090.1:p.Pro208= | |
| XM_024448323.1:c.624C>G | XP_024304091.1:p.Pro208= | |
| XM_024448324.1:c.624C>G | XP_024304092.1:p.Pro208= | |
| XR_001747721.2:n.748C>G | ||
| XR_001747722.1:n.745C>G | ||
| XR_001747723.2:n.745C>G | ||
| XR_002957115.1:n.746C>G | ||
| NM_006019.4:c.624C>G MANE Select | NP_006010.2:p.Pro208= | |
| NM_001351059.2:c.-287C>G | NP_001337988.1:n.-287C>G | |
| NM_006053.4:c.-25C>G | NP_006044.1:n.-25C>G |