Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123240G>A , CM000685.2:g.78123240G>A | GRCh38 |
| NC_000023.10:g.77378737G>A , CM000685.1:g.77378737G>A | GRCh37 |
| NC_000023.9:g.77265393G>A | NCBI36 |
| NG_008862.1:g.24072G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373316.5:c.802G>A MANE Select | ENSP00000362413.4:p.Asp268Asn | |
| ENST00000644362.1:c.718G>A | ENSP00000496140.1:p.Asp240Asn | |
| ENST00000373316.4:c.802G>A | ENSP00000362413.4:p.Asp268Asn | |
| ENST00000474281.1:n.209G>A | ||
| NM_000291.3:c.802G>A | NP_000282.1:p.Asp268Asn | |
| NM_000291.4:c.802G>A MANE Select | NP_000282.1:p.Asp268Asn |