Linked Data
ClinVar Variation Id:
240550
dbSNP Id:
rs114891564
ExAC:
12:133218812 G / A
gnomAD v2:
12-133218812-G-A
gnomAD v3:
12-132642226-G-A
gnomAD v4:
12-132642226-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132642226G>A , CM000674.2:g.132642226G>A | GRCh38 |
| NC_000012.11:g.133218812G>A , CM000674.1:g.133218812G>A | GRCh37 |
| NC_000012.10:g.131728885G>A | NCBI36 |
| NG_033840.1:g.50299C>T , LRG_789:g.50299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416953.3:n.2665C>T | ||
| ENST00000434528.5:c.33C>T | ENSP00000500921.1:p.Phe11= | |
| ENST00000544870.6:c.2797C>T | ENSP00000479927.2:n.2797C>T | |
| ENST00000699981.1:n.2778C>T | ||
| ENST00000699982.1:c.4978C>T | ||
| ENST00000699983.1:c.5682C>T | ||
| ENST00000699984.1:c.4978C>T | ||
| ENST00000320574.10:c.5124C>T MANE Select | ENSP00000322570.5:p.Phe1708= | |
| ENST00000434528.4:c.33C>T | ENSP00000500921.1:p.Phe11= | |
| ENST00000672002.1:c.2797C>T | ENSP00000500233.1:n.2797C>T | |
| ENST00000672742.1:c.*5330C>T | ENSP00000500279.1:n.*5330C>T | |
| ENST00000320574.9:c.5124C>T | ENSP00000322570.5:p.Phe1708= | |
| ENST00000535270.5:c.5043C>T | ENSP00000445753.1:p.Phe1681= | |
| ENST00000537064.5:c.*4875C>T | ENSP00000442578.1:n.*4875C>T | |
| NM_006231.3:c.5124C>T , LRG_789t1:c.5124C>T | NP_006222.2:p.Phe1708= | |
| XM_011534795.1:c.5124C>T | XP_011533097.1:p.Phe1708= | |
| XM_011534796.1:c.4995C>T | XP_011533098.1:p.Phe1665= | |
| XM_011534797.1:c.4203C>T | XP_011533099.1:p.Phe1401= | |
| XM_011534798.1:c.3786C>T | XP_011533100.1:p.Phe1262= | |
| XM_011534799.1:c.5124C>T | XP_011533101.1:p.Phe1708= | |
| XM_011534800.1:c.5124C>T | XP_011533102.1:p.Phe1708= | |
| XM_011534802.1:c.2112C>T | XP_011533104.1:p.Phe704= | |
| XM_011534795.3:c.5124C>T | XP_011533097.1:p.Phe1708= | |
| XM_011534797.3:c.4203C>T | XP_011533099.1:p.Phe1401= | |
| XM_011534799.2:c.5124C>T | XP_011533101.1:p.Phe1708= | |
| XM_011534802.3:c.2112C>T | XP_011533104.1:p.Phe704= | |
| XR_002957338.1:n.5328C>T | ||
| XR_002957339.1:n.5328C>T | ||
| XR_941395.2:n.5377C>T | ||
| NM_006231.4:c.5124C>T MANE Select | NP_006222.2:p.Phe1708= |