Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49121551C>T , CM000665.2:g.49121551C>T | GRCh38 |
| NC_000003.11:g.49158984C>T , CM000665.1:g.49158984C>T | GRCh37 |
| NC_000003.10:g.49133988C>T | NCBI36 |
| NG_008094.1:g.16616G>A | |
| NG_054716.1:g.4388G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.5142G>A MANE Select | NP_002283.3:p.Lys1714= |
| ENST00000305544.9:c.5142G>A MANE Select | ENSP00000307156.4:p.Lys1714= |
| NM_002292.3:c.5142G>A | NP_002283.3:p.Lys1714= |
| ENST00000305544.8:c.5142G>A | ENSP00000307156.4:p.Lys1714= |
| ENST00000418109.5:c.5142G>A | ENSP00000388325.1:p.Lys1714= |
| ENST00000467506.5:n.252G>A | |
| ENST00000484713.1:n.46G>A | |
| ENST00000498377.1:n.797G>A | |
| XM_005265127.3:c.5142G>A | XP_005265184.1:p.Lys1714= |
| XM_005265127.4:c.5142G>A | XP_005265184.1:p.Lys1714= |