Linked Data
ClinVar Variation Id:
2813317
ClinVar RCV Id:
RCV003677939
dbSNP Id:
rs780933742
ExAC:
12:133248790 C / T
gnomAD v2:
12-133248790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132672204C>T , CM000674.2:g.132672204C>T | GRCh38 |
| NC_000012.11:g.133248790C>T , CM000674.1:g.133248790C>T | GRCh37 |
| NC_000012.10:g.131758863C>T | NCBI36 |
| NG_033840.1:g.20321G>A , LRG_789:g.20321G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.549+11G>A | ||
| ENST00000699982.1:c.1648+11G>A | ||
| ENST00000699983.1:c.1648+11G>A | ||
| ENST00000699984.1:c.1648+11G>A | ||
| ENST00000320574.10:c.1794+11G>A MANE Select | ENSP00000322570.5:n.1794+11G>A | |
| ENST00000672742.1:c.*1296+11G>A | ENSP00000500279.1:n.*1296+11G>A | |
| ENST00000320574.9:c.1794+11G>A | ENSP00000322570.5:n.1794+11G>A | |
| ENST00000535270.5:c.1713+11G>A | ENSP00000445753.1:n.1713+11G>A | |
| ENST00000537064.5:c.*841+11G>A | ENSP00000442578.1:n.*841+11G>A | |
| NM_006231.3:c.1794+11G>A , LRG_789t1:c.1794+11G>A | NP_006222.2:n.1794+11G>A | |
| XM_011534795.1:c.1794+11G>A | XP_011533097.1:n.1794+11G>A | |
| XM_011534796.1:c.1665+11G>A | XP_011533098.1:n.1665+11G>A | |
| XM_011534797.1:c.873+11G>A | XP_011533099.1:n.873+11G>A | |
| XM_011534798.1:c.456+11G>A | XP_011533100.1:n.456+11G>A | |
| XM_011534799.1:c.1794+11G>A | XP_011533101.1:n.1794+11G>A | |
| XM_011534800.1:c.1794+11G>A | XP_011533102.1:n.1794+11G>A | |
| XM_011534801.1:c.1794+11G>A | XP_011533103.1:n.1794+11G>A | |
| XR_941395.1:n.2003+11G>A | ||
| XM_011534795.3:c.1794+11G>A | XP_011533097.1:n.1794+11G>A | |
| XM_011534797.3:c.873+11G>A | XP_011533099.1:n.873+11G>A | |
| XM_011534799.2:c.1794+11G>A | XP_011533101.1:n.1794+11G>A | |
| XR_002957338.1:n.1998+11G>A | ||
| XR_002957339.1:n.1998+11G>A | ||
| XR_941395.2:n.1998+11G>A | ||
| NM_006231.4:c.1794+11G>A MANE Select | NP_006222.2:n.1794+11G>A |