Linked Data
ClinVar Variation Id:
2359374
ClinVar RCV Id:
RCV004203110
dbSNP Id:
rs376905725
ExAC:
3:138407754 C / T
gnomAD v2:
3-138407754-C-T
gnomAD v3:
3-138688912-C-T
gnomAD v4:
3-138688912-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138688912C>T , CM000665.2:g.138688912C>T | GRCh38 |
| NC_000003.11:g.138407754C>T , CM000665.1:g.138407754C>T | GRCh37 |
| NC_000003.10:g.139890444C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674063.1:c.2099G>A MANE Select | ENSP00000501150.1:p.Arg700Gln | |
| ENST00000289153.6:c.2099G>A | ENSP00000289153.2:p.Arg700Gln | |
| ENST00000462898.5:c.*1668G>A | ENSP00000420108.1:n.*1668G>A | |
| ENST00000469284.6:c.666G>A | ENSP00000419513.2:n.666G>A | |
| ENST00000473435.1:c.695G>A | ENSP00000419091.1:p.Arg232Gln | |
| ENST00000477593.5:c.2099G>A | ENSP00000418143.1:p.Arg700Gln | |
| ENST00000481749.5:n.981G>A | ||
| ENST00000493568.5:c.994G>A | ||
| ENST00000544716.5:c.437G>A | ENSP00000438259.1:p.Arg146Gln | |
| NM_001256045.1:c.635G>A | NP_001242974.1:p.Arg212Gln | |
| NM_006219.2:c.2099G>A | NP_006210.1:p.Arg700Gln | |
| XM_005247530.2:c.2099G>A | XP_005247587.1:p.Arg700Gln | |
| XM_006713659.2:c.2099G>A | XP_006713722.1:p.Arg700Gln | |
| XM_011512895.1:c.2099G>A | XP_011511197.1:p.Arg700Gln | |
| XM_011512896.1:c.1595G>A | XP_011511198.1:p.Arg532Gln | |
| XM_006713659.3:c.2099G>A | XP_006713722.1:p.Arg700Gln | |
| XM_011512895.2:c.2099G>A | XP_011511197.1:p.Arg700Gln | |
| XM_017006619.1:c.2099G>A | XP_016862108.1:p.Arg700Gln | |
| XM_017006621.2:c.860G>A | XP_016862110.1:p.Arg287Gln | |
| XM_024453596.1:c.1877G>A | XP_024309364.1:p.Arg626Gln | |
| XM_024453597.1:c.911G>A | XP_024309365.1:p.Arg304Gln | |
| XR_002959542.1:n.1881+2088G>A | ||
| NM_006219.3:c.2099G>A MANE Select | NP_006210.1:p.Arg700Gln | |
| NM_001256045.2:c.635G>A | NP_001242974.1:p.Arg212Gln |