Linked Data
ClinVar Variation Id:
43127
dbSNP Id:
rs397516279
gnomAD v2:
3-46899913-C-G
gnomAD v4:
3-46858423-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46858423C>G , CM000665.2:g.46858423C>G | GRCh38 |
| NC_000003.11:g.46899913C>G , CM000665.1:g.46899913C>G | GRCh37 |
| NC_000003.10:g.46874917C>G | NCBI36 |
| NG_007555.2:g.28747G>C , LRG_395:g.28747G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431168.2:c.520G>C | ENSP00000393455.2:p.Ala174Pro | |
| ENST00000292327.6:c.520G>C MANE Select | ENSP00000292327.4:p.Ala174Pro | |
| ENST00000653454.1:c.520G>C | ENSP00000499624.1:p.Ala174Pro | |
| ENST00000654597.1:c.520G>C | ENSP00000499406.1:p.Ala174Pro | |
| ENST00000655244.1:n.727G>C | ||
| ENST00000662933.1:c.520G>C | ENSP00000499577.1:p.Ala174Pro | |
| ENST00000664891.1:n.478G>C | ||
| ENST00000292327.4:c.520G>C | ENSP00000292327.4:p.Ala174Pro | |
| ENST00000395869.5:c.520G>C | ENSP00000379210.1:p.Ala174Pro | |
| NM_000258.2:c.520G>C , LRG_395t1:c.520G>C | NP_000249.1:p.Ala174Pro | |
| NM_000258.3:c.520G>C MANE Select | NP_000249.1:p.Ala174Pro |