Linked Data
ClinVar Variation Id:
298922
ClinVar RCV Id:
RCV000376114
dbSNP Id:
rs886046744
gnomAD v2:
10-115348006-T-C
gnomAD v4:
10-113588247-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588247T>C , CM000672.2:g.113588247T>C | GRCh38 |
| NC_000010.10:g.115348006T>C , CM000672.1:g.115348006T>C | GRCh37 |
| NC_000010.9:g.115337996T>C | NCBI36 |
| NG_008956.1:g.40229T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.1561T>C MANE Select | ENSP00000277903.4:p.Tyr521His | |
| ENST00000351270.3:c.1561T>C | ENSP00000277903.4:p.Tyr521His | |
| ENST00000542051.5:c.1483T>C | ENSP00000443283.1:p.Tyr495His | |
| NM_001177660.1:c.1483T>C | NP_001171131.1:p.Tyr495His | |
| NM_004132.3:c.1561T>C | NP_004123.1:p.Tyr521His | |
| NM_001177660.2:c.1483T>C | NP_001171131.1:p.Tyr495His | |
| NM_004132.4:c.1561T>C | NP_004123.1:p.Tyr521His | |
| NM_004132.5:c.1561T>C MANE Select | NP_004123.1:p.Tyr521His | |
| NM_001177660.3:c.1483T>C | NP_001171131.1:p.Tyr495His |