Linked Data
ClinVar Variation Id:
450931
dbSNP Id:
rs1435021718
gnomAD v2:
5-160721425-T-C
gnomAD v3:
5-161294418-T-C
gnomAD v4:
5-161294418-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161294418T>C , CM000667.2:g.161294418T>C | GRCh38 |
| NC_000005.9:g.160721425T>C , CM000667.1:g.160721425T>C | GRCh37 |
| NC_000005.8:g.160654003T>C | NCBI36 |
| NG_047050.1:g.258707A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274547.7:c.1202A>G | ENSP00000274547.2:p.His401Arg | |
| ENST00000393959.6:c.1202A>G MANE Select | ENSP00000377531.1:p.His401Arg | |
| ENST00000675081.1:c.*547A>G | ENSP00000502207.1:n.*547A>G | |
| ENST00000675303.1:c.1088A>G | ENSP00000502748.1:p.His363Arg | |
| ENST00000675381.1:c.836A>G | ENSP00000501968.1:p.His279Arg | |
| ENST00000675746.1:c.338A>G | ENSP00000502391.1:p.His113Arg | |
| ENST00000675773.1:c.1088A>G | ENSP00000502701.1:p.His363Arg | |
| ENST00000274547.6:c.1202A>G | ENSP00000274547.2:p.His401Arg | |
| ENST00000353437.10:c.1088A>G | ENSP00000274546.6:p.His363Arg | |
| ENST00000393959.5:c.1202A>G | ENSP00000377531.1:p.His401Arg | |
| ENST00000517547.5:c.608A>G | ENSP00000429750.1:p.His203Arg | |
| ENST00000517901.5:c.899A>G | ENSP00000430532.1:p.His300Arg | |
| ENST00000520240.5:c.1088A>G | ENSP00000429320.1:p.His363Arg | |
| NM_000813.2:c.1088A>G | NP_000804.1:p.His363Arg | |
| NM_021911.2:c.1202A>G | NP_068711.1:p.His401Arg | |
| XM_011534501.1:c.452A>G | XP_011532803.1:p.His151Arg | |
| NM_000813.3:c.1088A>G | NP_000804.1:p.His363Arg | |
| NM_001371727.1:c.1202A>G MANE Select | NP_001358656.1:p.His401Arg | |
| NM_021911.3:c.1202A>G | NP_068711.1:p.His401Arg |