Linked Data
ClinVar Variation Id:
3385
ClinVar RCV Id:
RCV000003552
dbSNP Id:
rs137852926
gnomAD v2:
4-5683009-A-C
gnomAD v4:
4-5681282-A-C
PubMed:
PMID:12571802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5681282A>C , CM000666.2:g.5681282A>C | GRCh38 |
| NC_000004.11:g.5683009A>C , CM000666.1:g.5683009A>C | GRCh37 |
| NC_000004.10:g.5733910A>C | NCBI36 |
| NG_015821.1:g.33267T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.848T>G MANE Select | ENSP00000342144.5:p.Ile283Arg | |
| ENST00000310917.6:c.608T>G | ENSP00000311683.2:p.Ile203Arg | |
| ENST00000344408.9:c.848T>G | ENSP00000342144.5:p.Ile283Arg | |
| ENST00000475313.5:c.608T>G | ENSP00000431981.1:p.Ile203Arg | |
| ENST00000509670.1:c.608T>G | ENSP00000423876.1:p.Ile203Arg | |
| NM_001166136.1:c.608T>G | NP_001159608.1:p.Ile203Arg | |
| NM_147127.4:c.848T>G | NP_667338.3:p.Ile283Arg | |
| XM_011513392.1:c.848T>G | XP_011511694.1:p.Ile283Arg | |
| XM_011513393.1:c.848T>G | XP_011511695.1:p.Ile283Arg | |
| XM_011513394.1:c.608T>G | XP_011511696.1:p.Ile203Arg | |
| XM_017007736.1:c.608T>G | XP_016863225.1:p.Ile203Arg | |
| XM_017007737.1:c.608T>G | XP_016863226.1:p.Ile203Arg | |
| XM_017007738.1:c.848T>G | XP_016863227.1:p.Ile283Arg | |
| XM_017007739.1:c.-825T>G | XP_016863228.1:n.-825T>G | |
| XM_024453893.1:c.-929T>G | XP_024309661.1:n.-929T>G | |
| XR_001741141.1:n.913T>G | ||
| NM_147127.5:c.848T>G MANE Select | NP_667338.3:p.Ile283Arg | |
| NM_001166136.2:c.608T>G | NP_001159608.1:p.Ile203Arg |