Linked Data
ClinVar Variation Id:
1751337
ClinVar RCV Id:
RCV002358324
dbSNP Id:
rs1946004572
gnomAD v4:
12-40340405-T-C
MyVariant Identifiers:
chr12:g.40734207T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40340405T>C , CM000674.2:g.40340405T>C | GRCh38 |
| NC_000012.11:g.40734207T>C , CM000674.1:g.40734207T>C | GRCh37 |
| NC_000012.10:g.39020474T>C | NCBI36 |
| NG_011709.1:g.120395T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298910.12:c.6060T>C MANE Select | ENSP00000298910.7:p.Ile2020= | |
| ENST00000679360.1:c.*4969T>C | ENSP00000505368.1:n.*4969T>C | |
| ENST00000679532.1:c.1834T>C | ||
| ENST00000680018.1:c.1505T>C | ENSP00000505347.1:n.1505T>C | |
| ENST00000680422.1:c.1705T>C | ||
| ENST00000680425.1:c.1227T>C | ENSP00000506459.1:n.1227T>C | |
| ENST00000680453.1:c.1517T>C | ||
| ENST00000680790.1:c.5805T>C | ENSP00000505335.1:p.Ile1935= | |
| ENST00000681136.1:n.2044T>C | ||
| ENST00000681696.1:c.1743T>C | ENSP00000505871.1:p.Ile581= | |
| ENST00000298910.11:c.6060T>C | ENSP00000298910.7:p.Ile2020= | |
| ENST00000430804.5:c.3356T>C | ||
| ENST00000479187.5:n.2741T>C | ||
| NM_198578.3:c.6060T>C | NP_940980.3:p.Ile2020= | |
| XM_005268629.2:c.6060T>C | XP_005268686.1:p.Ile2020= | |
| XM_011537877.1:c.6060T>C | XP_011536179.1:p.Ile2020= | |
| XM_011537878.1:c.6060T>C | XP_011536180.1:p.Ile2020= | |
| XM_011537879.1:c.4857T>C | XP_011536181.1:p.Ile1619= | |
| XM_005268629.4:c.6060T>C | XP_005268686.1:p.Ile2020= | |
| XM_011537877.3:c.6060T>C | XP_011536179.1:p.Ile2020= | |
| XM_017018787.1:c.2976T>C | XP_016874276.1:p.Ile992= | |
| XM_017018788.2:c.2322T>C | XP_016874277.1:p.Ile774= | |
| XM_024448833.1:c.4857T>C | XP_024304601.1:p.Ile1619= | |
| NM_198578.4:c.6060T>C MANE Select | NP_940980.4:p.Ile2020= |