Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875159T>A , CM000664.2:g.240875159T>A | GRCh38 |
| NC_000002.11:g.241814576T>A , CM000664.1:g.241814576T>A | GRCh37 |
| NC_000002.10:g.241463249T>A | NCBI36 |
| NG_008005.1:g.11415T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.731T>A MANE Select | ENSP00000302620.3:p.Ile244Asn | |
| ENST00000307503.3:c.731T>A | ENSP00000302620.3:p.Ile244Asn | |
| ENST00000476698.1:n.383T>A | ||
| NM_000030.2:c.731T>A | NP_000021.1:p.Ile244Asn | |
| NM_000030.3:c.731T>A MANE Select | NP_000021.1:p.Ile244Asn |