Linked Data
ClinVar Variation Id:
1470202
ClinVar RCV Id:
RCV001964068
dbSNP Id:
rs2142785955
gnomAD v4:
14-50908309-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50908309A>G , CM000676.2:g.50908309A>G | GRCh38 |
| NC_000014.8:g.51375027A>G , CM000676.1:g.51375027A>G | GRCh37 |
| NC_000014.7:g.50444777A>G | NCBI36 |
| NG_012796.1:g.41222T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2341T>C MANE Select | ENSP00000216392.7:p.Tyr781His | |
| ENST00000216392.7:c.2341T>C | ENSP00000216392.7:p.Tyr781His | |
| ENST00000532107.2:n.514T>C | ||
| ENST00000532462.5:c.2341T>C | ENSP00000431657.1:p.Tyr781His | |
| ENST00000544180.6:c.2239T>C | ENSP00000443787.1:p.Tyr747His | |
| NM_001163940.1:c.2239T>C | NP_001157412.1:p.Tyr747His | |
| NM_002863.4:c.2341T>C | NP_002854.3:p.Tyr781His | |
| NM_002863.5:c.2341T>C MANE Select | NP_002854.3:p.Tyr781His | |
| NM_001163940.2:c.2239T>C | NP_001157412.1:p.Tyr747His |