Linked Data
ClinVar Variation Id:
1093842
ClinVar RCV Id:
RCV003657071
dbSNP Id:
rs2135997002
gnomAD v4:
12-132673269-G-T
MyVariant Identifiers:
chr12:g.133249855G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673269G>T , CM000674.2:g.132673269G>T | GRCh38 |
| NC_000012.11:g.133249855G>T , CM000674.1:g.133249855G>T | GRCh37 |
| NC_000012.10:g.131759928G>T | NCBI36 |
| NG_033840.1:g.19256C>A , LRG_789:g.19256C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.76C>A | ||
| ENST00000545015.2:n.1395C>A | ||
| ENST00000699982.1:c.1222C>A | ||
| ENST00000699983.1:c.1222C>A | ||
| ENST00000699984.1:c.1222C>A | ||
| ENST00000320574.10:c.1368C>A MANE Select | ENSP00000322570.5:p.Ala456= | |
| ENST00000672742.1:c.*870C>A | ENSP00000500279.1:n.*870C>A | |
| ENST00000320574.9:c.1368C>A | ENSP00000322570.5:p.Ala456= | |
| ENST00000535270.5:c.1287C>A | ENSP00000445753.1:p.Ala429= | |
| ENST00000535934.2:n.1243C>A | ||
| ENST00000537064.5:c.*415C>A | ENSP00000442578.1:n.*415C>A | |
| ENST00000539215.5:n.76C>A | ||
| NM_006231.3:c.1368C>A , LRG_789t1:c.1368C>A | NP_006222.2:p.Ala456= | |
| XM_011534795.1:c.1368C>A | XP_011533097.1:p.Ala456= | |
| XM_011534796.1:c.1239C>A | XP_011533098.1:p.Ala413= | |
| XM_011534797.1:c.447C>A | XP_011533099.1:p.Ala149= | |
| XM_011534798.1:c.30C>A | XP_011533100.1:p.Ala10= | |
| XM_011534799.1:c.1368C>A | XP_011533101.1:p.Ala456= | |
| XM_011534800.1:c.1368C>A | XP_011533102.1:p.Ala456= | |
| XM_011534801.1:c.1368C>A | XP_011533103.1:p.Ala456= | |
| XR_941395.1:n.1577C>A | ||
| XM_011534795.3:c.1368C>A | XP_011533097.1:p.Ala456= | |
| XM_011534797.3:c.447C>A | XP_011533099.1:p.Ala149= | |
| XM_011534799.2:c.1368C>A | XP_011533101.1:p.Ala456= | |
| XR_002957338.1:n.1572C>A | ||
| XR_002957339.1:n.1572C>A | ||
| XR_941395.2:n.1572C>A | ||
| NM_006231.4:c.1368C>A MANE Select | NP_006222.2:p.Ala456= |