Linked Data
ClinVar Variation Id:
181439
dbSNP Id:
rs139354105
gnomAD v2:
3-46902285-C-G
gnomAD v4:
3-46860795-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46860795C>G , CM000665.2:g.46860795C>G | GRCh38 |
| NC_000003.11:g.46902285C>G , CM000665.1:g.46902285C>G | GRCh37 |
| NC_000003.10:g.46877289C>G | NCBI36 |
| NG_007555.2:g.26375G>C , LRG_395:g.26375G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.188G>C | ENSP00000393455.2:p.Arg63Pro | |
| ENST00000292327.6:c.188G>C MANE Select | ENSP00000292327.4:p.Arg63Pro | |
| ENST00000653454.1:c.188G>C | ENSP00000499624.1:p.Arg63Pro | |
| ENST00000654597.1:c.188G>C | ENSP00000499406.1:p.Arg63Pro | |
| ENST00000655244.1:n.410G>C | ||
| ENST00000662933.1:c.188G>C | ENSP00000499577.1:p.Arg63Pro | |
| ENST00000664891.1:n.146G>C | ||
| ENST00000292327.4:c.188G>C | ENSP00000292327.4:p.Arg63Pro | |
| ENST00000395869.5:c.188G>C | ENSP00000379210.1:p.Arg63Pro | |
| NM_000258.2:c.188G>C , LRG_395t1:c.188G>C | NP_000249.1:p.Arg63Pro | |
| NM_000258.3:c.188G>C MANE Select | NP_000249.1:p.Arg63Pro |