Linked Data
gnomAD v4:
2-86040479-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86040479C>T , CM000664.2:g.86040479C>T | GRCh38 |
| NC_000002.11:g.86267602C>T , CM000664.1:g.86267602C>T | GRCh37 |
| NC_000002.10:g.86121113C>T | NCBI36 |
| NG_050742.2:g.70677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.3653G>A MANE Select | ENSP00000263857.6:p.Ser1218Asn | |
| ENST00000263857.10:c.3653G>A | ENSP00000263857.6:p.Ser1218Asn | |
| ENST00000409681.1:c.3653G>A | ENSP00000386300.1:p.Ser1218Asn | |
| ENST00000462078.1:n.41G>A | ||
| NM_015425.3:c.3653G>A | NP_056240.2:p.Ser1218Asn | |
| XM_006711983.2:c.3329G>A | XP_006712046.1:p.Ser1110Asn | |
| NM_015425.5:c.3653G>A | NP_056240.2:p.Ser1218Asn | |
| NM_015425.6:c.3653G>A MANE Select | NP_056240.2:p.Ser1218Asn |