Linked Data
gnomAD v4:
14-21312487-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312487T>A , CM000676.2:g.21312487T>A | GRCh38 |
| NC_000014.8:g.21780646T>A , CM000676.1:g.21780646T>A | GRCh37 |
| NC_000014.7:g.20850486T>A | NCBI36 |
| NG_008933.1:g.29511T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1132T>A MANE Select | ENSP00000382895.2:p.Tyr378Asn | |
| ENST00000400017.6:c.1132T>A | ENSP00000382895.2:p.Tyr378Asn | |
| ENST00000556336.5:c.1051T>A | ENSP00000450445.1:p.Tyr351Asn | |
| ENST00000557771.5:c.1051T>A | ENSP00000451219.1:p.Tyr351Asn | |
| NM_020366.3:c.1132T>A | NP_065099.3:p.Tyr378Asn | |
| XM_011536983.1:c.1099T>A | XP_011535285.1:p.Tyr367Asn | |
| NM_020366.4:c.1132T>A MANE Select | NP_065099.3:p.Tyr378Asn |