Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49124449A>G , CM000665.2:g.49124449A>G | GRCh38 |
| NC_000003.11:g.49161882A>G , CM000665.1:g.49161882A>G | GRCh37 |
| NC_000003.10:g.49136886A>G | NCBI36 |
| NG_008094.1:g.13718T>C | |
| NG_054716.1:g.1490T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.3273T>C MANE Select | NP_002283.3:p.Gly1091= |
| ENST00000305544.9:c.3273T>C MANE Select | ENSP00000307156.4:p.Gly1091= |
| NM_002292.3:c.3273T>C | NP_002283.3:p.Gly1091= |
| ENST00000305544.8:c.3273T>C | ENSP00000307156.4:p.Gly1091= |
| ENST00000418109.5:c.3273T>C | ENSP00000388325.1:p.Gly1091= |
| ENST00000480640.1:n.31T>C | |
| ENST00000538659.1:n.175T>C | |
| ENST00000542580.1:n.588T>C | |
| XM_005265127.3:c.3273T>C | XP_005265184.1:p.Gly1091= |
| XM_005265127.4:c.3273T>C | XP_005265184.1:p.Gly1091= |