Linked Data
dbSNP Id:
rs770820787
ExAC:
16:30197989 G / A
gnomAD v2:
16-30197989-G-A
gnomAD v4:
16-30186668-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30186668G>A , CM000678.2:g.30186668G>A | GRCh38 |
| NC_000016.9:g.30197989G>A , CM000678.1:g.30197989G>A | GRCh37 |
| NC_000016.8:g.30105490G>A | NCBI36 |
| NG_023415.1:g.8064G>A , LRG_195:g.8064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696217.1:n.255G>A | ||
| ENST00000219150.10:c.269G>A MANE Select | ENSP00000219150.6:p.Cys90Tyr | |
| ENST00000219150.9:c.269G>A | ENSP00000219150.5:p.Cys90Tyr | |
| ENST00000561815.5:c.377G>A | ENSP00000456756.1:p.Cys126Tyr | |
| ENST00000563778.5:c.269G>A | ENSP00000456266.1:p.Cys90Tyr | |
| ENST00000565497.5:c.269G>A | ENSP00000456457.1:p.Cys90Tyr | |
| ENST00000567034.5:n.737G>A | ||
| ENST00000568763.1:n.1581G>A | ||
| ENST00000568982.5:n.387G>A | ||
| ENST00000569203.5:c.269G>A | ENSP00000454752.1:p.Cys90Tyr | |
| ENST00000569469.1:n.379G>A | ||
| ENST00000569970.1:c.269G>A | ENSP00000457509.1:p.Cys90Tyr | |
| ENST00000570045.5:c.269G>A | ENSP00000455552.1:p.Cys90Tyr | |
| ENST00000570244.5:c.199-148G>A | ENSP00000457332.1:n.199-148G>A | |
| NM_001193333.2:c.269G>A | NP_001180262.1:p.Cys90Tyr | |
| NM_007074.3:c.269G>A | NP_009005.1:p.Cys90Tyr | |
| XM_011545714.1:c.269G>A | XP_011544016.1:p.Cys90Tyr | |
| XM_011545714.2:c.269G>A | XP_011544016.1:p.Cys90Tyr | |
| XM_017022885.2:c.269G>A | XP_016878374.1:p.Cys90Tyr | |
| XM_017022886.1:c.269G>A | XP_016878375.1:p.Cys90Tyr | |
| NM_007074.4:c.269G>A MANE Select | NP_009005.1:p.Cys90Tyr | |
| NM_001193333.3:c.269G>A | NP_001180262.1:p.Cys90Tyr |