Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123978T>C , CM000665.2:g.49123978T>C | GRCh38 |
| NC_000003.11:g.49161411T>C , CM000665.1:g.49161411T>C | GRCh37 |
| NC_000003.10:g.49136415T>C | NCBI36 |
| NG_008094.1:g.14189A>G | |
| NG_054716.1:g.1961A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.3547A>G MANE Select | NP_002283.3:p.Ile1183Val |
| ENST00000305544.9:c.3547A>G MANE Select | ENSP00000307156.4:p.Ile1183Val |
| NM_002292.3:c.3547A>G | NP_002283.3:p.Ile1183Val |
| ENST00000305544.8:c.3547A>G | ENSP00000307156.4:p.Ile1183Val |
| ENST00000418109.5:c.3547A>G | ENSP00000388325.1:p.Ile1183Val |
| ENST00000480640.1:n.305A>G | |
| ENST00000538659.1:n.557A>G | |
| XM_005265127.3:c.3547A>G | XP_005265184.1:p.Ile1183Val |
| XM_005265127.4:c.3547A>G | XP_005265184.1:p.Ile1183Val |