gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86048991G>A , CM000664.2:g.86048991G>A | GRCh38 |
| NC_000002.11:g.86276114G>A , CM000664.1:g.86276114G>A | GRCh37 |
| NC_000002.10:g.86129625G>A | NCBI36 |
| NG_050742.2:g.62165C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.2527C>T MANE Select | ENSP00000263857.6:p.Arg843Ter | |
| ENST00000263857.10:c.2527C>T | ENSP00000263857.6:p.Arg843Ter | |
| ENST00000409681.1:c.2527C>T | ENSP00000386300.1:p.Arg843Ter | |
| NM_015425.3:c.2527C>T | NP_056240.2:p.Arg843Ter | |
| XM_006711983.2:c.2203C>T | XP_006712046.1:p.Arg735Ter | |
| NM_015425.5:c.2527C>T | NP_056240.2:p.Arg843Ter | |
| NM_015425.6:c.2527C>T MANE Select | NP_056240.2:p.Arg843Ter |