Linked Data
ClinVar Variation Id:
386158
dbSNP Id:
rs138997061
ExAC:
11:68703718 T / C
gnomAD v2:
11-68703718-T-C
gnomAD v3:
11-68936250-T-C
gnomAD v4:
11-68936250-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936250T>C , CM000673.2:g.68936250T>C | GRCh38 |
| NC_000011.9:g.68703718T>C , CM000673.1:g.68703718T>C | GRCh37 |
| NC_000011.8:g.68460294T>C | NCBI36 |
| NG_007976.1:g.37400T>C , LRG_250:g.37400T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255078.8:c.1770T>C MANE Select | ENSP00000255078.4:p.Phe590= | |
| ENST00000674675.1:c.14T>C | ||
| ENST00000674878.1:c.14T>C | ||
| ENST00000674955.1:c.*487T>C | ENSP00000502463.1:n.*487T>C | |
| ENST00000675118.1:c.1258T>C | ||
| ENST00000675389.1:n.45T>C | ||
| ENST00000675615.1:c.1770T>C | ENSP00000502413.1:p.Phe590= | |
| ENST00000675648.1:n.1145T>C | ||
| ENST00000675916.1:c.14T>C | ||
| ENST00000676173.1:n.2515T>C | ||
| ENST00000676182.1:c.201T>C | ||
| ENST00000676228.1:c.*1093T>C | ENSP00000502375.1:n.*1093T>C | |
| ENST00000255078.7:c.1770T>C | ENSP00000255078.3:p.Phe590= | |
| ENST00000539064.5:n.1529T>C | ||
| ENST00000541229.5:n.465T>C | ||
| ENST00000543739.5:n.763T>C | ||
| ENST00000545475.1:n.366T>C | ||
| NM_002180.2:c.1770T>C , LRG_250t1:c.1770T>C | NP_002171.2:p.Phe590= | |
| XM_005273974.2:c.759T>C | XP_005274031.1:p.Phe253= | |
| XM_005273975.2:c.642T>C | XP_005274032.1:p.Phe214= | |
| XM_011544994.1:c.537T>C | XP_011543296.1:p.Phe179= | |
| XR_949903.1:n.1872T>C | ||
| XM_005273975.3:c.642T>C | XP_005274032.1:p.Phe214= | |
| XM_017017669.2:c.759T>C | XP_016873158.1:p.Phe253= | |
| XM_017017670.2:c.759T>C | XP_016873159.1:p.Phe253= | |
| XR_949903.3:n.1868T>C | ||
| NM_002180.3:c.1770T>C MANE Select | NP_002171.2:p.Phe590= |