Linked Data
dbSNP Id:
rs766239486
ExAC:
14:51376717 C / A
gnomAD v2:
14-51376717-C-A
gnomAD v4:
14-50909999-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50909999C>A , CM000676.2:g.50909999C>A | GRCh38 |
| NC_000014.8:g.51376717C>A , CM000676.1:g.51376717C>A | GRCh37 |
| NC_000014.7:g.50446467C>A | NCBI36 |
| NG_012796.1:g.39532G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2073G>T MANE Select | ENSP00000216392.7:p.Gly691= | |
| ENST00000216392.7:c.2073G>T | ENSP00000216392.7:p.Gly691= | |
| ENST00000532107.2:n.246G>T | ||
| ENST00000532462.5:c.2073G>T | ENSP00000431657.1:p.Gly691= | |
| ENST00000544180.6:c.1971G>T | ENSP00000443787.1:p.Gly657= | |
| NM_001163940.1:c.1971G>T | NP_001157412.1:p.Gly657= | |
| NM_002863.4:c.2073G>T | NP_002854.3:p.Gly691= | |
| NM_002863.5:c.2073G>T MANE Select | NP_002854.3:p.Gly691= | |
| NM_001163940.2:c.1971G>T | NP_001157412.1:p.Gly657= |