Linked Data
ClinVar Variation Id:
345568
dbSNP Id:
rs1042973
gnomAD v2:
3-46899516-C-T
gnomAD v3:
3-46858026-C-T
gnomAD v4:
3-46858026-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46858026C>T , CM000665.2:g.46858026C>T | GRCh38 |
| NC_000003.11:g.46899516C>T , CM000665.1:g.46899516C>T | GRCh37 |
| NC_000003.10:g.46874520C>T | NCBI36 |
| NG_007555.2:g.29144G>A , LRG_395:g.29144G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.*89G>A | ENSP00000393455.2:n.*89G>A | |
| ENST00000292327.6:c.*89G>A MANE Select | ENSP00000292327.4:n.*89G>A | |
| ENST00000653454.1:c.*13+205G>A | ENSP00000499624.1:n.*13+205G>A | |
| ENST00000654597.1:c.*13+205G>A | ENSP00000499406.1:n.*13+205G>A | |
| ENST00000655244.1:n.884G>A | ||
| ENST00000662933.1:c.*89G>A | ENSP00000499577.1:n.*89G>A | |
| ENST00000664891.1:n.635G>A | ||
| ENST00000292327.4:c.*89G>A | ENSP00000292327.4:n.*89G>A | |
| ENST00000395869.5:c.*218G>A | ENSP00000379210.1:n.*218G>A | |
| NM_000258.2:c.*89G>A , LRG_395t1:c.*89G>A | NP_000249.1:n.*89G>A | |
| NM_000258.3:c.*89G>A MANE Select | NP_000249.1:n.*89G>A |