Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49132281T= , CM000665.2:g.49132281T= | GRCh38 |
| NC_000003.11:g.49169714T= , CM000665.1:g.49169714T= | GRCh37 |
| NC_000003.10:g.49144718T= | NCBI36 |
| NG_008094.1:g.5886A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.374A= MANE Select | NP_002283.3:p.Gln125= |
| ENST00000305544.9:c.374A= MANE Select | ENSP00000307156.4:p.Gln125= |
| NM_002292.3:c.374A= | NP_002283.3:p.Gln125= |
| ENST00000305544.8:c.374A= | ENSP00000307156.4:p.Gln125= |
| ENST00000418109.5:c.374A= | ENSP00000388325.1:p.Gln125= |
| ENST00000494831.1:c.-27-127A= | ENSP00000444751.1:n.-27-127A= |
| XM_005265127.3:c.374A= | XP_005265184.1:p.Gln125= |
| XM_005265127.4:c.374A= | XP_005265184.1:p.Gln125= |