Linked Data
dbSNP Id:
rs1885866879
gnomAD v4:
12-109595174-C-T
MyVariant Identifiers:
chr12:g.110032979C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109595174C>T , CM000674.2:g.109595174C>T | GRCh38 |
| NC_000012.11:g.110032979C>T , CM000674.1:g.110032979C>T | GRCh37 |
| NC_000012.10:g.108517362C>T | NCBI36 |
| NG_007702.1:g.26480C>T , LRG_156:g.26480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.189C>T | ENSP00000439134.1:p.Leu63= | |
| ENST00000546277.6:c.1032C>T | ENSP00000438153.2:p.Leu344= | |
| ENST00000636529.2:n.671C>T | ||
| ENST00000697195.1:c.*796C>T | ENSP00000513181.1:n.*796C>T | |
| ENST00000697196.1:c.*205C>T | ENSP00000513182.1:n.*205C>T | |
| ENST00000697197.1:n.3061C>T | ||
| ENST00000697198.1:n.1416C>T | ||
| ENST00000228510.8:c.1032C>T MANE Select | ENSP00000228510.3:p.Leu344= | |
| ENST00000636529.1:c.657C>T | ||
| ENST00000636996.1:c.880C>T | ||
| ENST00000228510.7:c.1032C>T | ENSP00000228510.3:p.Leu344= | |
| ENST00000392727.7:c.876C>T | ENSP00000376487.3:p.Leu292= | |
| ENST00000447878.6:c.*479C>T | ENSP00000415555.2:n.*479C>T | |
| ENST00000537237.5:c.*705C>T | ENSP00000445382.1:n.*705C>T | |
| ENST00000539575.4:c.1032C>T | ENSP00000443551.2:p.Leu344= | |
| ENST00000539696.5:c.189C>T | ENSP00000439134.1:p.Leu63= | |
| ENST00000540353.1:n.3265C>T | ||
| ENST00000625889.2:c.876C>T | ENSP00000486846.1:p.Leu292= | |
| ENST00000629016.2:c.*479C>T | ENSP00000486804.1:n.*479C>T | |
| NM_000431.3:c.1032C>T | NP_000422.1:p.Leu344= | |
| NM_001114185.2:c.1032C>T | NP_001107657.1:p.Leu344= | |
| NM_001301182.1:c.876C>T | NP_001288111.1:p.Leu292= | |
| XM_011538372.1:c.1032C>T | XP_011536674.1:p.Leu344= | |
| XM_017019313.2:c.876C>T | XP_016874802.1:p.Leu292= | |
| XM_017019314.1:c.1032C>T | XP_016874803.1:p.Leu344= | |
| NM_000431.4:c.1032C>T MANE Select | NP_000422.1:p.Leu344= | |
| NM_001114185.3:c.1032C>T | NP_001107657.1:p.Leu344= | |
| NM_001301182.2:c.876C>T | NP_001288111.1:p.Leu292= |