Linked Data
dbSNP Id:
rs1721636577
gnomAD v4:
4-99420788-T-C
MyVariant Identifiers:
chr4:g.100341945T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420788T>C , CM000666.2:g.99420788T>C | GRCh38 |
| NC_000004.11:g.100341945T>C , CM000666.1:g.100341945T>C | GRCh37 |
| NC_000004.10:g.100560968T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.570A>G MANE Select | ENSP00000414254.2:p.Lys190= | |
| ENST00000209665.8:c.606A>G | ENSP00000209665.4:p.Lys202= | |
| ENST00000437033.6:c.570A>G | ENSP00000414254.2:p.Lys190= | |
| ENST00000476959.5:c.630A>G | ENSP00000420269.1:p.Lys210= | |
| ENST00000482593.5:c.399A>G | ENSP00000420613.1:p.Lys133= | |
| NM_000673.4:c.606A>G | NP_000664.2:p.Lys202= | |
| NM_001166504.1:c.630A>G | NP_001159976.1:p.Lys210= | |
| NM_000673.7:c.570A>G MANE Select | NP_000664.3:p.Lys190= | |
| NM_001166504.2:c.630A>G | NP_001159976.1:p.Lys210= |