Linked Data
gnomAD v4:
2-96265245-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265245G>T , CM000664.2:g.96265245G>T | GRCh38 |
| NC_000002.11:g.96930983G>T , CM000664.1:g.96930983G>T | GRCh37 |
| NC_000002.10:g.96294710G>T | NCBI36 |
| NG_027695.1:g.5769C>A , LRG_528:g.5769C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.137C>A MANE Select | ENSP00000258439.3:p.Thr46Asn | |
| ENST00000258439.7:c.137C>A | ENSP00000258439.2:p.Thr46Asn | |
| ENST00000432959.1:c.137C>A | ENSP00000416660.1:p.Thr46Asn | |
| NM_001193304.2:c.137C>A | NP_001180233.1:p.Thr46Asn | |
| NM_017849.3:c.137C>A , LRG_528t1:c.137C>A | NP_060319.1:p.Thr46Asn | |
| NM_001193304.3:c.137C>A | NP_001180233.1:p.Thr46Asn | |
| NM_017849.4:c.137C>A MANE Select | NP_060319.1:p.Thr46Asn |