Linked Data
dbSNP Id:
rs768802856
ExAC:
14:20940604 A / G
gnomAD v2:
14-20940604-A-G
gnomAD v4:
14-20472445-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20472445A>G , CM000676.2:g.20472445A>G | GRCh38 |
| NC_000014.8:g.20940604A>G , CM000676.1:g.20940604A>G | GRCh37 |
| NC_000014.7:g.20010444A>G | NCBI36 |
| NG_009631.1:g.8063A>G , LRG_91:g.8063A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553591.2:c.266A>G | ENSP00000452421.2:p.Tyr89Cys | |
| ENST00000556293.6:n.268A>G | ||
| ENST00000556754.2:n.1211A>G | ||
| ENST00000557229.6:n.268A>G | ||
| ENST00000697613.1:c.149A>G | ENSP00000513359.1:p.Tyr50Cys | |
| ENST00000697614.1:c.-89A>G | ENSP00000513360.1:n.-89A>G | |
| ENST00000697615.1:n.667A>G | ||
| ENST00000361505.10:c.149A>G MANE Select | ENSP00000354532.6:p.Tyr50Cys | |
| ENST00000361505.9:c.149A>G | ENSP00000354532.5:p.Tyr50Cys | |
| ENST00000553418.5:c.149A>G | ENSP00000450663.1:p.Tyr50Cys | |
| ENST00000553591.1:c.266A>G | ENSP00000452421.1:p.Tyr89Cys | |
| ENST00000554056.5:n.260A>G | ||
| ENST00000554065.1:c.-89A>G | ENSP00000451108.1:n.-89A>G | |
| ENST00000556293.5:n.268A>G | ||
| ENST00000557229.5:n.268A>G | ||
| NM_000270.3:c.149A>G , LRG_91t1:c.149A>G | NP_000261.2:p.Tyr50Cys | |
| NM_000270.4:c.149A>G MANE Select | NP_000261.2:p.Tyr50Cys |