Linked Data
ClinVar Variation Id:
12063
ClinVar RCV Id:
RCV000012843
dbSNP Id:
rs121964943
ExAC:
13:113783835 A / G
gnomAD v2:
13-113783835-A-G
gnomAD v4:
13-113129521-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113129521A>G , CM000675.2:g.113129521A>G | GRCh38 |
| NC_000013.10:g.113783835A>G , CM000675.1:g.113783835A>G | GRCh37 |
| NC_000013.9:g.112831836A>G | NCBI36 |
| NG_009258.1:g.11723A>G , LRG_548:g.11723A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375559.8:c.140A>G (F10) MANE Select | ENSP00000364709.3:p.Glu47Gly | |
| ENST00000375551.7:c.140A>G (F10) | ENSP00000364701.3:p.Glu47Gly | |
| ENST00000375559.7:c.140A>G (F10) | ENSP00000364709.3:p.Glu47Gly | |
| ENST00000409306.5:c.140A>G (F10) | ENSP00000387092.1:p.Glu47Gly | |
| ENST00000410083.6:c.140A>G (F10) | ENSP00000386320.2:p.Glu47Gly | |
| ENST00000477269.5:n.177A>G (F10) | ||
| ENST00000483537.1:n.160A>G (F10) | ||
| NM_000504.3:c.140A>G , LRG_548t1:c.140A>G (F10) | NP_000495.1:p.Glu47Gly | |
| NM_001312674.1:c.140A>G (F10) | NP_001299603.1:p.Glu47Gly | |
| NM_001312675.1:c.140A>G (F10) | NP_001299604.1:p.Glu47Gly | |
| NR_126424.1:n.41+485T>C (F10-AS1) | ||
| NM_000504.4:c.140A>G (F10) MANE Select | NP_000495.1:p.Glu47Gly | |
| NM_001312674.2:c.140A>G (F10) | NP_001299603.1:p.Glu47Gly | |
| NM_001312675.2:c.140A>G (F10) | NP_001299604.1:p.Glu47Gly |