Linked Data
dbSNP Id:
rs780812527
gnomAD v2:
3-93595890-T-C
gnomAD v3:
3-93877046-T-C
gnomAD v4:
3-93877046-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93877046T>C , CM000665.2:g.93877046T>C | GRCh38 |
| NC_000003.11:g.93595890T>C , CM000665.1:g.93595890T>C | GRCh37 |
| NC_000003.10:g.95078580T>C | NCBI36 |
| NG_009813.1:g.102045A>G , LRG_572:g.102045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1790A>G | ENSP00000330021.7:p.His597Arg | |
| ENST00000394236.9:c.1790A>G MANE Select | ENSP00000377783.3:p.His597Arg | |
| ENST00000407433.6:c.1745A>G | ENSP00000385794.2:p.His582Arg | |
| ENST00000647936.1:c.1644+2117A>G | ENSP00000496822.1:n.1644+2117A>G | |
| ENST00000648381.1:n.1958A>G | ||
| ENST00000648853.1:c.1748A>G | ENSP00000497262.1:p.His583Arg | |
| ENST00000649585.1:c.733A>G | ENSP00000498163.1:n.733A>G | |
| ENST00000650591.1:c.1886A>G | ENSP00000497376.1:p.His629Arg | |
| ENST00000394236.7:c.1790A>G | ENSP00000377783.3:p.His597Arg | |
| ENST00000407433.5:c.1397A>G | ENSP00000385794.1:p.His466Arg | |
| NM_000313.3:c.1790A>G , LRG_572t1:c.1790A>G | NP_000304.2:p.His597Arg | |
| NM_001314077.1:c.1886A>G , LRG_572t2:c.1886A>G | NP_001301006.1:p.His629Arg | |
| NM_000313.4:c.1790A>G MANE Select | NP_000304.2:p.His597Arg | |
| NM_001314077.2:c.1886A>G | NP_001301006.1:p.His629Arg |