Linked Data
ClinVar Variation Id:
238306
dbSNP Id:
rs2228012
ExAC:
3:38522875 C / T
gnomAD v2:
3-38522875-C-T
gnomAD v3:
3-38481384-C-T
gnomAD v4:
3-38481384-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38481384C>T , CM000665.2:g.38481384C>T | GRCh38 |
| NC_000003.11:g.38522875C>T , CM000665.1:g.38522875C>T | GRCh37 |
| NC_000003.10:g.38497879C>T | NCBI36 |
| NG_011791.1:g.32086C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352511.5:c.993C>T MANE Select | ENSP00000340361.3:p.Ser331= | |
| ENST00000352511.4:c.993C>T | ENSP00000340361.3:p.Ser331= | |
| ENST00000461232.1:n.4782C>T | ||
| ENST00000465020.5:n.1079C>T | ||
| NM_001106.3:c.993C>T | NP_001097.2:p.Ser331= | |
| XM_005265583.2:c.1056C>T | XP_005265640.1:p.Ser352= | |
| XM_005265583.3:c.1056C>T | XP_005265640.1:p.Ser352= | |
| XM_017007514.1:c.1035C>T | XP_016863003.1:p.Ser345= | |
| XM_017007515.2:c.1011C>T | XP_016863004.1:p.Ser337= | |
| XM_017007516.1:c.990C>T | XP_016863005.1:p.Ser330= | |
| NM_001106.4:c.993C>T MANE Select | NP_001097.2:p.Ser331= |