Linked Data
ClinVar Variation Id:
240405
dbSNP Id:
rs200095915
ExAC:
12:133248796 G / A
gnomAD v2:
12-133248796-G-A
gnomAD v3:
12-132672210-G-A
gnomAD v4:
12-132672210-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132672210G>A , CM000674.2:g.132672210G>A | GRCh38 |
| NC_000012.11:g.133248796G>A , CM000674.1:g.133248796G>A | GRCh37 |
| NC_000012.10:g.131758869G>A | NCBI36 |
| NG_033840.1:g.20315C>T , LRG_789:g.20315C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539215.6:c.549+5C>T | ||
| ENST00000699982.1:c.1648+5C>T | ||
| ENST00000699983.1:c.1648+5C>T | ||
| ENST00000699984.1:c.1648+5C>T | ||
| ENST00000320574.10:c.1794+5C>T MANE Select | ENSP00000322570.5:n.1794+5C>T | |
| ENST00000672742.1:c.*1296+5C>T | ENSP00000500279.1:n.*1296+5C>T | |
| ENST00000320574.9:c.1794+5C>T | ENSP00000322570.5:n.1794+5C>T | |
| ENST00000535270.5:c.1713+5C>T | ENSP00000445753.1:n.1713+5C>T | |
| ENST00000537064.5:c.*841+5C>T | ENSP00000442578.1:n.*841+5C>T | |
| NM_006231.3:c.1794+5C>T , LRG_789t1:c.1794+5C>T | NP_006222.2:n.1794+5C>T | |
| XM_011534795.1:c.1794+5C>T | XP_011533097.1:n.1794+5C>T | |
| XM_011534796.1:c.1665+5C>T | XP_011533098.1:n.1665+5C>T | |
| XM_011534797.1:c.873+5C>T | XP_011533099.1:n.873+5C>T | |
| XM_011534798.1:c.456+5C>T | XP_011533100.1:n.456+5C>T | |
| XM_011534799.1:c.1794+5C>T | XP_011533101.1:n.1794+5C>T | |
| XM_011534800.1:c.1794+5C>T | XP_011533102.1:n.1794+5C>T | |
| XM_011534801.1:c.1794+5C>T | XP_011533103.1:n.1794+5C>T | |
| XR_941395.1:n.2003+5C>T | ||
| XM_011534795.3:c.1794+5C>T | XP_011533097.1:n.1794+5C>T | |
| XM_011534797.3:c.873+5C>T | XP_011533099.1:n.873+5C>T | |
| XM_011534799.2:c.1794+5C>T | XP_011533101.1:n.1794+5C>T | |
| XR_002957338.1:n.1998+5C>T | ||
| XR_002957339.1:n.1998+5C>T | ||
| XR_941395.2:n.1998+5C>T | ||
| NM_006231.4:c.1794+5C>T MANE Select | NP_006222.2:n.1794+5C>T |