Linked Data
ClinVar Variation Id:
292331
ClinVar RCV Id:
RCV000309230
dbSNP Id:
rs773364048
ExAC:
1:120295961 A / G
gnomAD v2:
1-120295961-A-G
gnomAD v3:
1-119753338-A-G
gnomAD v4:
1-119753338-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753338A>G , CM000663.2:g.119753338A>G | GRCh38 |
| NC_000001.10:g.120295961A>G , CM000663.1:g.120295961A>G | GRCh37 |
| NC_000001.9:g.120097484A>G | NCBI36 |
| NG_013348.1:g.20595T>C , LRG_447:g.20595T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1236T>C MANE Select | ENSP00000358414.3:p.Tyr412= | |
| ENST00000369406.7:c.1236T>C | ENSP00000358414.3:p.Tyr412= | |
| ENST00000544913.2:c.1110T>C | ENSP00000439495.2:p.Tyr370= | |
| NM_001166107.1:c.1110T>C , LRG_447t2:c.1110T>C | NP_001159579.1:p.Tyr370= | |
| NM_005518.3:c.1236T>C , LRG_447t1:c.1236T>C | NP_005509.1:p.Tyr412= | |
| XM_011541313.1:c.1071T>C | XP_011539615.1:p.Tyr357= | |
| XM_011541313.2:c.1071T>C | XP_011539615.1:p.Tyr357= | |
| NM_005518.4:c.1236T>C MANE Select | NP_005509.1:p.Tyr412= |