Linked Data
ClinVar Variation Id:
180713
dbSNP Id:
rs730880378
gnomAD v4:
11-94490846-G-A
PubMed:
PMID:24332946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94490846G>A , CM000673.2:g.94490846G>A | GRCh38 |
| NC_000011.9:g.94224012G>A , CM000673.1:g.94224012G>A | GRCh37 |
| NC_000011.8:g.93863660G>A | NCBI36 |
| NG_007261.1:g.8029C>T , LRG_85:g.8029C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.140C>T MANE Select | ENSP00000325863.4:p.Ala47Val | |
| ENST00000323929.7:c.140C>T | ENSP00000325863.3:p.Ala47Val | |
| ENST00000323977.7:c.140C>T | ENSP00000326094.3:p.Ala47Val | |
| ENST00000393241.8:c.140C>T | ENSP00000376933.4:p.Ala47Val | |
| ENST00000407439.7:c.149C>T | ENSP00000385614.3:p.Ala50Val | |
| ENST00000536144.1:n.375C>T | ||
| ENST00000536754.5:c.140C>T | ENSP00000439511.1:p.Ala47Val | |
| ENST00000538923.1:c.140C>T | ENSP00000442809.1:p.Ala47Val | |
| ENST00000540013.5:c.140C>T | ENSP00000440986.1:p.Ala47Val | |
| ENST00000541157.5:n.304C>T | ||
| NM_005590.3:c.140C>T | NP_005581.2:p.Ala47Val | |
| NM_005591.3:c.140C>T , LRG_85t1:c.140C>T | NP_005582.1:p.Ala47Val | |
| XM_006718842.2:c.140C>T | XP_006718905.1:p.Ala47Val | |
| XM_011542837.1:c.140C>T | XP_011541139.1:p.Ala47Val | |
| XR_947828.1:n.436C>T | ||
| NM_001330347.1:c.140C>T | NP_001317276.1:p.Ala47Val | |
| XM_005274008.3:c.-325C>T | XP_005274065.1:n.-325C>T | |
| XM_006718842.3:c.140C>T | XP_006718905.1:p.Ala47Val | |
| XM_011542837.2:c.140C>T | XP_011541139.1:p.Ala47Val | |
| XM_017017772.1:c.140C>T | XP_016873261.1:p.Ala47Val | |
| XR_947828.2:n.436C>T | ||
| NM_001330347.2:c.140C>T | NP_001317276.1:p.Ala47Val | |
| NM_005590.4:c.140C>T | NP_005581.2:p.Ala47Val | |
| NM_005591.4:c.140C>T MANE Select | NP_005582.1:p.Ala47Val |