Linked Data
ClinVar Variation Id:
180822
dbSNP Id:
rs146705974
ExAC:
11:119167651 C / T
gnomAD v2:
11-119167651-C-T
gnomAD v3:
11-119296941-C-T
gnomAD v4:
11-119296941-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119296941C>T , CM000673.2:g.119296941C>T | GRCh38 |
| NC_000011.9:g.119167651C>T , CM000673.1:g.119167651C>T | GRCh37 |
| NC_000011.8:g.118672861C>T | NCBI36 |
| NG_016808.1:g.95662C>T , LRG_608:g.95662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1512C>T | ENSP00000515005.1:n.*1512C>T | |
| ENST00000264033.6:c.2060C>T MANE Select | ENSP00000264033.3:p.Pro687Leu | |
| ENST00000637974.1:c.2054C>T | ENSP00000490763.1:p.Pro685Leu | |
| ENST00000264033.5:c.2060C>T | ENSP00000264033.3:p.Pro687Leu | |
| ENST00000634586.1:c.2060C>T | ENSP00000489218.1:p.Pro687Leu | |
| ENST00000634840.1:c.1928C>T | ENSP00000489324.1:p.Pro643Leu | |
| NM_005188.3:c.2060C>T , LRG_608t1:c.2060C>T | NP_005179.2:p.Pro687Leu | |
| NM_005188.4:c.2060C>T MANE Select | NP_005179.2:p.Pro687Leu |