Linked Data
ClinVar Variation Id:
544605
ClinVar RCV Id:
RCV000655802
dbSNP Id:
rs200416242
ExAC:
3:52428490 C / T
gnomAD v2:
3-52428490-C-T
gnomAD v3:
3-52394474-C-T
gnomAD v4:
3-52394474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52394474C>T , CM000665.2:g.52394474C>T | GRCh38 |
| NC_000003.11:g.52428490C>T , CM000665.1:g.52428490C>T | GRCh37 |
| NC_000003.10:g.52403530C>T | NCBI36 |
| NG_052911.1:g.83156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.10636C>T MANE Select | ENSP00000401514.2:p.Arg3546Ter | |
| ENST00000420323.6:c.10636C>T | ENSP00000401514.2:p.Arg3546Ter | |
| ENST00000486752.5:n.11093C>T | ||
| ENST00000488988.5:n.2422C>T | ||
| ENST00000490713.5:c.1336C>T | ENSP00000419071.1:p.Arg446Ter | |
| NM_015512.4:c.10636C>T | NP_056327.4:p.Arg3546Ter | |
| XM_011533577.1:c.10705C>T | XP_011531879.1:p.Arg3569Ter | |
| XM_017006129.1:c.10705C>T | XP_016861618.1:p.Arg3569Ter | |
| XM_017006130.1:c.10636C>T | XP_016861619.1:p.Arg3546Ter | |
| XM_017006131.1:c.10579C>T | XP_016861620.1:p.Arg3527Ter | |
| XR_001740098.1:n.13854C>T | ||
| XR_001740099.1:n.13854C>T | ||
| NM_015512.5:c.10636C>T MANE Select | NP_056327.4:p.Arg3546Ter |