Linked Data
ClinVar Variation Id:
629442
ClinVar RCV Id:
RCV000774149
dbSNP Id:
rs763216044
ExAC:
3:46899912 G / A
gnomAD v2:
3-46899912-G-A
gnomAD v4:
3-46858422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46858422G>A , CM000665.2:g.46858422G>A | GRCh38 |
| NC_000003.11:g.46899912G>A , CM000665.1:g.46899912G>A | GRCh37 |
| NC_000003.10:g.46874916G>A | NCBI36 |
| NG_007555.2:g.28748C>T , LRG_395:g.28748C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431168.2:c.521C>T | ENSP00000393455.2:p.Ala174Val | |
| ENST00000292327.6:c.521C>T MANE Select | ENSP00000292327.4:p.Ala174Val | |
| ENST00000653454.1:c.521C>T | ENSP00000499624.1:p.Ala174Val | |
| ENST00000654597.1:c.521C>T | ENSP00000499406.1:p.Ala174Val | |
| ENST00000655244.1:n.728C>T | ||
| ENST00000662933.1:c.521C>T | ENSP00000499577.1:p.Ala174Val | |
| ENST00000664891.1:n.479C>T | ||
| ENST00000292327.4:c.521C>T | ENSP00000292327.4:p.Ala174Val | |
| ENST00000395869.5:c.521C>T | ENSP00000379210.1:p.Ala174Val | |
| NM_000258.2:c.521C>T , LRG_395t1:c.521C>T | NP_000249.1:p.Ala174Val | |
| NM_000258.3:c.521C>T MANE Select | NP_000249.1:p.Ala174Val |