Linked Data
ClinVar Variation Id:
264111
dbSNP Id:
rs200461617
ExAC:
12:114841649 C / A
gnomAD v2:
12-114841649-C-A
gnomAD v3:
12-114403844-C-A
gnomAD v4:
12-114403844-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114403844C>A , CM000674.2:g.114403844C>A | GRCh38 |
| NC_000012.11:g.114841649C>A , CM000674.1:g.114841649C>A | GRCh37 |
| NC_000012.10:g.113326032C>A | NCBI36 |
| NG_007373.1:g.9599G>T , LRG_670:g.9599G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405440.7:c.55G>T MANE Select | ENSP00000384152.3:p.Ala19Ser | |
| ENST00000310346.8:c.55G>T | ENSP00000309913.4:p.Ala19Ser | |
| ENST00000349716.9:c.-3-1924G>T | ENSP00000337723.5:n.-3-1924G>T | |
| ENST00000405440.6:c.55G>T | ENSP00000384152.2:p.Ala19Ser | |
| ENST00000526441.1:c.55G>T | ENSP00000433292.1:p.Ala19Ser | |
| ENST00000552726.1:n.106G>T | ||
| NM_000192.3:c.55G>T , LRG_670t1:c.55G>T | NP_000183.2:p.Ala19Ser | |
| NM_080717.2:c.-3-1924G>T | NP_542448.1:n.-3-1924G>T | |
| NM_181486.2:c.55G>T | NP_852259.1:p.Ala19Ser | |
| XM_017019912.1:c.103G>T | XP_016875401.1:p.Ala35Ser | |
| NM_080717.3:c.-3-1924G>T | NP_542448.1:n.-3-1924G>T | |
| NM_181486.4:c.55G>T MANE Select | NP_852259.1:p.Ala19Ser | |
| NM_080717.4:c.-3-1924G>T | NP_542448.1:n.-3-1924G>T |