Linked Data
dbSNP Id:
rs2135996438
gnomAD v4:
12-132673230-C-T
MyVariant Identifiers:
chr12:g.133249816C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132673230C>T , CM000674.2:g.132673230C>T | GRCh38 |
| NC_000012.11:g.133249816C>T , CM000674.1:g.133249816C>T | GRCh37 |
| NC_000012.10:g.131759889C>T | NCBI36 |
| NG_033840.1:g.19295G>A , LRG_789:g.19295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539215.6:c.115G>A | ||
| ENST00000545015.2:n.1434G>A | ||
| ENST00000699982.1:c.1261G>A | ||
| ENST00000699983.1:c.1261G>A | ||
| ENST00000699984.1:c.1261G>A | ||
| ENST00000320574.10:c.1407G>A MANE Select | ENSP00000322570.5:p.Leu469= | |
| ENST00000672742.1:c.*909G>A | ENSP00000500279.1:n.*909G>A | |
| ENST00000320574.9:c.1407G>A | ENSP00000322570.5:p.Leu469= | |
| ENST00000535270.5:c.1326G>A | ENSP00000445753.1:p.Leu442= | |
| ENST00000535934.2:n.1282G>A | ||
| ENST00000537064.5:c.*454G>A | ENSP00000442578.1:n.*454G>A | |
| ENST00000539215.5:n.115G>A | ||
| ENST00000545015.1:n.4G>A | ||
| NM_006231.3:c.1407G>A , LRG_789t1:c.1407G>A | NP_006222.2:p.Leu469= | |
| XM_011534795.1:c.1407G>A | XP_011533097.1:p.Leu469= | |
| XM_011534796.1:c.1278G>A | XP_011533098.1:p.Leu426= | |
| XM_011534797.1:c.486G>A | XP_011533099.1:p.Leu162= | |
| XM_011534798.1:c.69G>A | XP_011533100.1:p.Leu23= | |
| XM_011534799.1:c.1407G>A | XP_011533101.1:p.Leu469= | |
| XM_011534800.1:c.1407G>A | XP_011533102.1:p.Leu469= | |
| XM_011534801.1:c.1407G>A | XP_011533103.1:p.Leu469= | |
| XR_941395.1:n.1616G>A | ||
| XM_011534795.3:c.1407G>A | XP_011533097.1:p.Leu469= | |
| XM_011534797.3:c.486G>A | XP_011533099.1:p.Leu162= | |
| XM_011534799.2:c.1407G>A | XP_011533101.1:p.Leu469= | |
| XR_002957338.1:n.1611G>A | ||
| XR_002957339.1:n.1611G>A | ||
| XR_941395.2:n.1611G>A | ||
| NM_006231.4:c.1407G>A MANE Select | NP_006222.2:p.Leu469= |