Linked Data
ClinVar Variation Id:
36648
ClinVar RCV Id:
RCV002490422
dbSNP Id:
rs193922391
ExAC:
3:46899903 T / C
gnomAD v2:
3-46899903-T-C
gnomAD v3:
3-46858413-T-C
gnomAD v4:
3-46858413-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46858413T>C , CM000665.2:g.46858413T>C | GRCh38 |
| NC_000003.11:g.46899903T>C , CM000665.1:g.46899903T>C | GRCh37 |
| NC_000003.10:g.46874907T>C | NCBI36 |
| NG_007555.2:g.28757A>G , LRG_395:g.28757A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431168.2:c.530A>G | ENSP00000393455.2:p.Glu177Gly | |
| ENST00000292327.6:c.530A>G MANE Select | ENSP00000292327.4:p.Glu177Gly | |
| ENST00000653454.1:c.530A>G | ENSP00000499624.1:p.Glu177Gly | |
| ENST00000654597.1:c.530A>G | ENSP00000499406.1:p.Glu177Gly | |
| ENST00000655244.1:n.737A>G | ||
| ENST00000662933.1:c.530A>G | ENSP00000499577.1:p.Glu177Gly | |
| ENST00000664891.1:n.488A>G | ||
| ENST00000292327.4:c.530A>G | ENSP00000292327.4:p.Glu177Gly | |
| ENST00000395869.5:c.530A>G | ENSP00000379210.1:p.Glu177Gly | |
| NM_000258.2:c.530A>G , LRG_395t1:c.530A>G | NP_000249.1:p.Glu177Gly | |
| NM_000258.3:c.530A>G MANE Select | NP_000249.1:p.Glu177Gly |