Linked Data
ClinVar Variation Id:
346050
dbSNP Id:
rs4688684
ExAC:
3:50231621 C / T
gnomAD v2:
3-50231621-C-T
gnomAD v3:
3-50194188-C-T
gnomAD v4:
3-50194188-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50194188C>T , CM000665.2:g.50194188C>T | GRCh38 |
| NC_000003.11:g.50231621C>T , CM000665.1:g.50231621C>T | GRCh37 |
| NC_000003.10:g.50206625C>T | NCBI36 |
| NG_009831.1:g.7579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.675C>T MANE Select | ENSP00000232461.3:p.Ala225= | |
| ENST00000232461.7:c.675C>T | ENSP00000232461.3:p.Ala225= | |
| ENST00000433068.5:c.675C>T | ENSP00000387555.1:p.Ala225= | |
| NM_000172.3:c.675C>T | NP_000163.2:p.Ala225= | |
| NM_144499.2:c.675C>T | NP_653082.1:p.Ala225= | |
| XM_011533595.1:c.531C>T | XP_011531897.1:p.Ala177= | |
| XM_011533596.1:c.531C>T | XP_011531898.1:p.Ala177= | |
| XR_940416.1:n.955C>T | ||
| NM_000172.4:c.675C>T | NP_000163.2:p.Ala225= | |
| NM_144499.3:c.675C>T MANE Select | NP_653082.1:p.Ala225= |