Linked Data
ClinVar Variation Id:
307311
dbSNP Id:
rs567785340
ExAC:
12:114841647 T / C
gnomAD v2:
12-114841647-T-C
gnomAD v3:
12-114403842-T-C
gnomAD v4:
12-114403842-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114403842T>C , CM000674.2:g.114403842T>C | GRCh38 |
| NC_000012.11:g.114841647T>C , CM000674.1:g.114841647T>C | GRCh37 |
| NC_000012.10:g.113326030T>C | NCBI36 |
| NG_007373.1:g.9601A>G , LRG_670:g.9601A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.57A>G MANE Select | ENSP00000384152.3:p.Ala19= | |
| ENST00000310346.8:c.57A>G | ENSP00000309913.4:p.Ala19= | |
| ENST00000349716.9:c.-3-1922A>G | ENSP00000337723.5:n.-3-1922A>G | |
| ENST00000405440.6:c.57A>G | ENSP00000384152.2:p.Ala19= | |
| ENST00000526441.1:c.57A>G | ENSP00000433292.1:p.Ala19= | |
| ENST00000552726.1:n.108A>G | ||
| NM_000192.3:c.57A>G , LRG_670t1:c.57A>G | NP_000183.2:p.Ala19= | |
| NM_080717.2:c.-3-1922A>G | NP_542448.1:n.-3-1922A>G | |
| NM_181486.2:c.57A>G | NP_852259.1:p.Ala19= | |
| XM_017019912.1:c.105A>G | XP_016875401.1:p.Ala35= | |
| NM_080717.3:c.-3-1922A>G | NP_542448.1:n.-3-1922A>G | |
| NM_181486.4:c.57A>G MANE Select | NP_852259.1:p.Ala19= | |
| NM_080717.4:c.-3-1922A>G | NP_542448.1:n.-3-1922A>G |