Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123884C>T , CM000665.2:g.49123884C>T | GRCh38 |
| NC_000003.11:g.49161317C>T , CM000665.1:g.49161317C>T | GRCh37 |
| NC_000003.10:g.49136321C>T | NCBI36 |
| NG_008094.1:g.14283G>A | |
| NG_054716.1:g.2055G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.3641G>A MANE Select | NP_002283.3:p.Arg1214Gln |
| ENST00000305544.9:c.3641G>A MANE Select | ENSP00000307156.4:p.Arg1214Gln |
| NM_002292.3:c.3641G>A | NP_002283.3:p.Arg1214Gln |
| ENST00000305544.8:c.3641G>A | ENSP00000307156.4:p.Arg1214Gln |
| ENST00000418109.5:c.3641G>A | ENSP00000388325.1:p.Arg1214Gln |
| ENST00000477225.1:n.72G>A | |
| ENST00000480640.1:n.399G>A | |
| XM_005265127.3:c.3641G>A | XP_005265184.1:p.Arg1214Gln |
| XM_005265127.4:c.3641G>A | XP_005265184.1:p.Arg1214Gln |