Linked Data
ClinVar Variation Id:
295323
ClinVar RCV Id:
RCV001516568
dbSNP Id:
rs17677416
ExAC:
1:213061308 T / C
gnomAD v2:
1-213061308-T-C
gnomAD v3:
1-212887966-T-C
gnomAD v4:
1-212887966-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212887966T>C , CM000663.2:g.212887966T>C | GRCh38 |
| NC_000001.10:g.213061308T>C , CM000663.1:g.213061308T>C | GRCh37 |
| NC_000001.9:g.211127931T>C | NCBI36 |
| NG_028131.1:g.34712T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366971.9:c.1272T>C MANE Select | ENSP00000355938.4:p.Tyr424= | |
| ENST00000366971.8:c.1272T>C | ENSP00000355938.4:p.Tyr424= | |
| ENST00000419102.1:c.668T>C | ||
| ENST00000483790.1:n.135-523T>C | ||
| NM_014053.3:c.1272T>C | NP_054772.1:p.Tyr424= | |
| XM_011509446.1:c.1197-523T>C | XP_011507748.1:n.1197-523T>C | |
| XR_247024.1:n.1446T>C | ||
| XM_011509446.3:c.1197-523T>C | XP_011507748.1:n.1197-523T>C | |
| XR_247024.3:n.1446T>C | ||
| NM_014053.4:c.1272T>C MANE Select | NP_054772.1:p.Tyr424= |