Linked Data
dbSNP Id:
rs1189460003
gnomAD v2:
1-213032163-T-G
gnomAD v3:
1-212858821-T-G
gnomAD v4:
1-212858821-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212858821T>G , CM000663.2:g.212858821T>G | GRCh38 |
| NC_000001.10:g.213032163T>G , CM000663.1:g.213032163T>G | GRCh37 |
| NC_000001.9:g.211098786T>G | NCBI36 |
| NG_028131.1:g.5567T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.369T>G MANE Select | ENSP00000355938.4:p.Phe123Leu | |
| ENST00000366971.8:c.369T>G | ENSP00000355938.4:p.Phe123Leu | |
| NM_014053.3:c.369T>G | NP_054772.1:p.Phe123Leu | |
| XM_011509446.1:c.369T>G | XP_011507748.1:p.Phe123Leu | |
| XM_011509447.1:c.369T>G | XP_011507749.1:p.Phe123Leu | |
| XM_011509448.1:c.369T>G | XP_011507750.1:p.Phe123Leu | |
| XR_247024.1:n.543T>G | ||
| XR_426771.1:n.543T>G | ||
| XR_426772.2:n.543T>G | ||
| XR_921769.1:n.543T>G | ||
| XM_011509446.3:c.369T>G | XP_011507748.1:p.Phe123Leu | |
| XM_011509447.2:c.369T>G | XP_011507749.1:p.Phe123Leu | |
| XR_247024.3:n.543T>G | ||
| XR_426772.3:n.543T>G | ||
| NM_014053.4:c.369T>G MANE Select | NP_054772.1:p.Phe123Leu |