Linked Data
ClinVar Variation Id:
469424
ClinVar RCV Id:
RCV000541185
dbSNP Id:
rs149203149
ExAC:
12:41302288 T / C
gnomAD v2:
12-41302288-T-C
gnomAD v3:
12-40908486-T-C
gnomAD v4:
12-40908486-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40908486T>C , CM000674.2:g.40908486T>C | GRCh38 |
| NC_000012.11:g.41302288T>C , CM000674.1:g.41302288T>C | GRCh37 |
| NC_000012.10:g.39588555T>C | NCBI36 |
| NG_012058.2:g.220931T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547849.6:c.54T>C | ENSP00000448653.1:p.Cys18= | |
| ENST00000551295.7:c.54T>C MANE Select | ENSP00000447006.1:p.Cys18= | |
| ENST00000347616.5:c.54T>C | ENSP00000325660.3:p.Cys18= | |
| ENST00000348761.2:c.54T>C | ENSP00000261160.3:p.Cys18= | |
| ENST00000547702.5:c.54T>C | ENSP00000448004.1:p.Cys18= | |
| ENST00000547849.5:c.54T>C | ENSP00000448653.1:p.Cys18= | |
| ENST00000548005.5:c.54T>C | ENSP00000447862.1:p.Cys18= | |
| ENST00000551295.6:c.54T>C | ENSP00000447006.1:p.Cys18= | |
| ENST00000551424.5:c.54T>C | ENSP00000450412.1:p.Cys18= | |
| ENST00000552248.5:c.54T>C | ENSP00000447860.1:p.Cys18= | |
| ENST00000552913.5:c.54T>C | ENSP00000449706.1:p.Cys18= | |
| NM_001256063.1:c.54T>C | NP_001242992.1:p.Cys18= | |
| NM_001256064.1:c.54T>C | NP_001242993.1:p.Cys18= | |
| NM_001843.3:c.54T>C | NP_001834.2:p.Cys18= | |
| NM_175038.2:c.54T>C | NP_778203.1:p.Cys18= | |
| XM_005268651.1:c.54T>C | XP_005268708.1:p.Cys18= | |
| XM_006719241.1:c.54T>C | XP_006719304.1:p.Cys18= | |
| XM_011537926.1:c.54T>C | XP_011536228.1:p.Cys18= | |
| XM_011537927.1:c.54T>C | XP_011536229.1:p.Cys18= | |
| XM_005268651.2:c.54T>C | XP_005268708.1:p.Cys18= | |
| XM_006719241.2:c.54T>C | XP_006719304.1:p.Cys18= | |
| XM_011537926.3:c.54T>C | XP_011536228.1:p.Cys18= | |
| XM_011537927.2:c.54T>C | XP_011536229.1:p.Cys18= | |
| XM_017018826.2:c.54T>C | XP_016874315.1:p.Cys18= | |
| XM_017018827.2:c.54T>C | XP_016874316.1:p.Cys18= | |
| XM_024448843.1:c.54T>C | XP_024304611.1:p.Cys18= | |
| XR_002957288.1:n.276T>C | ||
| XR_002957289.1:n.397T>C | ||
| XR_002957290.1:n.644T>C | ||
| XR_002957291.1:n.268T>C | ||
| NM_001843.4:c.54T>C MANE Select | NP_001834.2:p.Cys18= | |
| NM_001256063.2:c.54T>C | NP_001242992.1:p.Cys18= | |
| NM_001256064.2:c.54T>C | NP_001242993.1:p.Cys18= |