Linked Data
ClinVar Variation Id:
295311
dbSNP Id:
rs886045923
gnomAD v2:
1-213031836-C-T
gnomAD v3:
1-212858494-C-T
gnomAD v4:
1-212858494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212858494C>T , CM000663.2:g.212858494C>T | GRCh38 |
| NC_000001.10:g.213031836C>T , CM000663.1:g.213031836C>T | GRCh37 |
| NC_000001.9:g.211098459C>T | NCBI36 |
| NG_028131.1:g.5240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.42C>T MANE Select | ENSP00000355938.4:p.Pro14= | |
| ENST00000366971.8:c.42C>T | ENSP00000355938.4:p.Pro14= | |
| NM_014053.3:c.42C>T | NP_054772.1:p.Pro14= | |
| XM_011509446.1:c.42C>T | XP_011507748.1:p.Pro14= | |
| XM_011509447.1:c.42C>T | XP_011507749.1:p.Pro14= | |
| XM_011509448.1:c.42C>T | XP_011507750.1:p.Pro14= | |
| XR_247024.1:n.216C>T | ||
| XR_426771.1:n.216C>T | ||
| XR_426772.2:n.216C>T | ||
| XR_921769.1:n.216C>T | ||
| XM_011509446.3:c.42C>T | XP_011507748.1:p.Pro14= | |
| XM_011509447.2:c.42C>T | XP_011507749.1:p.Pro14= | |
| XR_247024.3:n.216C>T | ||
| XR_426772.3:n.216C>T | ||
| NM_014053.4:c.42C>T MANE Select | NP_054772.1:p.Pro14= |