Linked Data
gnomAD v4:
12-57764521-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764521A>C , CM000674.2:g.57764521A>C | GRCh38 |
| NC_000012.11:g.58158304A>C , CM000674.1:g.58158304A>C | GRCh37 |
| NC_000012.10:g.56444571A>C | NCBI36 |
| NG_007076.1:g.7673T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1074T>G | ENSP00000518840.1:p.Tyr358Ter | |
| ENST00000713545.1:c.1051T>G | ENSP00000518841.1:p.Ter351Gly | |
| ENST00000228606.9:c.993T>G MANE Select | ENSP00000228606.4:p.Tyr331Ter | |
| ENST00000228606.8:c.993T>G | ENSP00000228606.4:p.Tyr331Ter | |
| ENST00000546567.5:c.288T>G | ENSP00000449472.1:p.Tyr96Ter | |
| ENST00000547344.5:n.1132T>G | ||
| NM_000785.3:c.993T>G | NP_000776.1:p.Tyr331Ter | |
| NM_000785.4:c.993T>G MANE Select | NP_000776.1:p.Tyr331Ter |