Linked Data
dbSNP Id:
rs772395656
ExAC:
14:51410926 C / T
gnomAD v2:
14-51410926-C-T
gnomAD v4:
14-50944208-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944208C>T , CM000676.2:g.50944208C>T | GRCh38 |
| NC_000014.8:g.51410926C>T , CM000676.1:g.51410926C>T | GRCh37 |
| NC_000014.7:g.50480676C>T | NCBI36 |
| NG_012796.1:g.5323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.196G>A MANE Select | ENSP00000216392.7:p.Gly66Arg | |
| ENST00000216392.7:c.196G>A | ENSP00000216392.7:p.Gly66Arg | |
| ENST00000530336.2:n.263G>A | ||
| ENST00000532462.5:c.196G>A | ENSP00000431657.1:p.Gly66Arg | |
| ENST00000544180.6:c.196G>A | ENSP00000443787.1:p.Gly66Arg | |
| NM_001163940.1:c.196G>A | NP_001157412.1:p.Gly66Arg | |
| NM_002863.4:c.196G>A | NP_002854.3:p.Gly66Arg | |
| NM_002863.5:c.196G>A MANE Select | NP_002854.3:p.Gly66Arg | |
| NM_001163940.2:c.196G>A | NP_001157412.1:p.Gly66Arg |