Linked Data
ClinVar Variation Id:
1756803
ClinVar RCV Id:
RCV002378267
gnomAD v4:
12-40363408-T-C
MyVariant Identifiers:
chr12:g.40757210T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363408T>C , CM000674.2:g.40363408T>C | GRCh38 |
| NC_000012.11:g.40757210T>C , CM000674.1:g.40757210T>C | GRCh37 |
| NC_000012.10:g.39043477T>C | NCBI36 |
| NG_011709.1:g.143398T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7035T>C MANE Select | ENSP00000298910.7:p.Ser2345= | |
| ENST00000636518.1:c.832T>C | ||
| ENST00000679360.1:c.*5944T>C | ENSP00000505368.1:n.*5944T>C | |
| ENST00000679532.1:c.2809T>C | ||
| ENST00000679683.1:c.825T>C | ||
| ENST00000680018.1:c.2480T>C | ENSP00000505347.1:n.2480T>C | |
| ENST00000680422.1:c.4122T>C | ||
| ENST00000680425.1:c.2202T>C | ENSP00000506459.1:n.2202T>C | |
| ENST00000680453.1:c.2492T>C | ||
| ENST00000680790.1:c.6780T>C | ENSP00000505335.1:p.Ser2260= | |
| ENST00000681136.1:n.3019T>C | ||
| ENST00000681696.1:c.2718T>C | ENSP00000505871.1:p.Ser906= | |
| ENST00000681773.1:n.242T>C | ||
| ENST00000298910.11:c.7035T>C | ENSP00000298910.7:p.Ser2345= | |
| ENST00000430804.5:c.4331T>C | ||
| ENST00000479187.5:n.3716T>C | ||
| NM_198578.3:c.7035T>C | NP_940980.3:p.Ser2345= | |
| XM_005268629.2:c.7035T>C | XP_005268686.1:p.Ser2345= | |
| XM_011537877.1:c.7035T>C | XP_011536179.1:p.Ser2345= | |
| XM_011537879.1:c.5832T>C | XP_011536181.1:p.Ser1944= | |
| XR_944868.1:n.485-8581A>G | ||
| XM_005268629.4:c.7035T>C | XP_005268686.1:p.Ser2345= | |
| XM_011537877.3:c.7035T>C | XP_011536179.1:p.Ser2345= | |
| XM_017018787.1:c.3951T>C | XP_016874276.1:p.Ser1317= | |
| XM_017018788.2:c.3297T>C | XP_016874277.1:p.Ser1099= | |
| XM_024448833.1:c.5832T>C | XP_024304601.1:p.Ser1944= | |
| XR_944868.2:n.485-8581A>G | ||
| NM_198578.4:c.7035T>C MANE Select | NP_940980.4:p.Ser2345= |