Linked Data
ClinVar Variation Id:
1530737
ClinVar RCV Id:
RCV002099469
dbSNP Id:
rs1973188882
gnomAD v4:
19-35849088-A-G
MyVariant Identifiers:
chr19:g.36339990A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849088A>G , CM000681.2:g.35849088A>G | GRCh38 |
| NC_000019.9:g.36339990A>G , CM000681.1:g.36339990A>G | GRCh37 |
| NC_000019.8:g.41031830A>G | NCBI36 |
| NG_013356.2:g.25200T>C , LRG_693:g.25200T>C | |
| NG_051206.1:g.2454A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.900T>C MANE Select | ENSP00000368190.4:p.Ser300= | |
| ENST00000353632.6:c.900T>C | ENSP00000343634.5:p.Ser300= | |
| ENST00000378910.9:c.900T>C | ENSP00000368190.4:p.Ser300= | |
| NM_004646.3:c.900T>C , LRG_693t1:c.900T>C | NP_004637.1:p.Ser300= | |
| NM_004646.4:c.900T>C MANE Select | NP_004637.1:p.Ser300= |