Linked Data
ClinVar Variation Id:
18418
dbSNP Id:
rs267606820
ExAC:
1:213032155 A / G
gnomAD v2:
1-213032155-A-G
gnomAD v3:
1-212858813-A-G
gnomAD v4:
1-212858813-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212858813A>G , CM000663.2:g.212858813A>G | GRCh38 |
| NC_000001.10:g.213032155A>G , CM000663.1:g.213032155A>G | GRCh37 |
| NC_000001.9:g.211098778A>G | NCBI36 |
| NG_028131.1:g.5559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.361A>G MANE Select | ENSP00000355938.4:p.Asn121Asp | |
| ENST00000366971.8:c.361A>G | ENSP00000355938.4:p.Asn121Asp | |
| NM_014053.3:c.361A>G | NP_054772.1:p.Asn121Asp | |
| XM_011509446.1:c.361A>G | XP_011507748.1:p.Asn121Asp | |
| XM_011509447.1:c.361A>G | XP_011507749.1:p.Asn121Asp | |
| XM_011509448.1:c.361A>G | XP_011507750.1:p.Asn121Asp | |
| XR_247024.1:n.535A>G | ||
| XR_426771.1:n.535A>G | ||
| XR_426772.2:n.535A>G | ||
| XR_921769.1:n.535A>G | ||
| XM_011509446.3:c.361A>G | XP_011507748.1:p.Asn121Asp | |
| XM_011509447.2:c.361A>G | XP_011507749.1:p.Asn121Asp | |
| XR_247024.3:n.535A>G | ||
| XR_426772.3:n.535A>G | ||
| NM_014053.4:c.361A>G MANE Select | NP_054772.1:p.Asn121Asp |