Linked Data
dbSNP Id:
rs760177195
ExAC:
16:14038623 G / T
gnomAD v2:
16-14038623-G-T
gnomAD v4:
16-13944766-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13944766G>T , CM000678.2:g.13944766G>T | GRCh38 |
| NC_000016.9:g.14038623G>T , CM000678.1:g.14038623G>T | GRCh37 |
| NC_000016.8:g.13946124G>T | NCBI36 |
| NG_011442.1:g.29610G>T , LRG_463:g.29610G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2086G>T | ENSP00000507912.1:p.Asp696Tyr | |
| ENST00000683962.1:c.*1642G>T | ENSP00000506854.1:n.*1642G>T | |
| ENST00000311895.8:c.1948G>T MANE Select | ENSP00000310520.7:p.Asp650Tyr | |
| ENST00000311895.7:c.1948G>T | ENSP00000310520.7:p.Asp650Tyr | |
| ENST00000389138.7:n.1225G>T | ||
| ENST00000462862.1:c.261G>T | ENSP00000461322.1:n.261G>T | |
| NM_005236.2:c.1948G>T , LRG_463t1:c.1948G>T | NP_005227.1:p.Asp650Tyr | |
| XM_011522424.1:c.2086G>T | XP_011520726.1:p.Asp696Tyr | |
| XM_011522425.1:c.1405G>T | XP_011520727.1:p.Asp469Tyr | |
| XM_011522426.1:c.1159G>T | XP_011520728.1:p.Asp387Tyr | |
| XM_011522427.1:c.598G>T | XP_011520729.1:p.Asp200Tyr | |
| XR_932805.1:n.2107G>T | ||
| XM_011522424.3:c.2086G>T | XP_011520726.1:p.Asp696Tyr | |
| XM_017023043.2:c.1159G>T | XP_016878532.1:p.Asp387Tyr | |
| NM_005236.3:c.1948G>T MANE Select | NP_005227.1:p.Asp650Tyr |