Linked Data
gnomAD v4:
14-75003370-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003370A>T , CM000676.2:g.75003370A>T | GRCh38 |
| NC_000014.8:g.75470073A>T , CM000676.1:g.75470073A>T | GRCh37 |
| NC_000014.7:g.74539826A>T | NCBI36 |
| NG_013333.1:g.5462A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.259A>T MANE Select | ENSP00000266126.5:p.Lys87Ter | |
| ENST00000266126.9:c.259A>T | ENSP00000266126.5:p.Lys87Ter | |
| ENST00000553401.5:c.232A>T | ENSP00000451681.1:p.Lys78Ter | |
| ENST00000553539.1:n.399A>T | ||
| ENST00000555522.1:n.317A>T | ||
| ENST00000556028.5:c.259A>T | ENSP00000452311.1:p.Lys87Ter | |
| NM_014239.3:c.259A>T | NP_055054.1:p.Lys87Ter | |
| NM_014239.4:c.259A>T MANE Select | NP_055054.1:p.Lys87Ter |