Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154439061G>A , CM000685.2:g.154439061G>A | GRCh38 |
| NC_000023.10:g.153667407G>A , CM000685.1:g.153667407G>A | GRCh37 |
| NC_000023.9:g.153320601G>A | NCBI36 |
| NG_008954.1:g.7149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447750.7:c.309G>A MANE Select | ENSP00000394071.2:p.Lys103= | |
| ENST00000434049.1:c.309G>A | ENSP00000416195.1:p.Lys103= | |
| ENST00000445564.5:c.*233G>A | ENSP00000394752.1:n.*233G>A | |
| ENST00000447750.6:c.309G>A | ENSP00000394071.2:p.Lys103= | |
| ENST00000475976.5:n.410G>A | ||
| ENST00000481304.5:n.375G>A | ||
| ENST00000485143.5:n.547G>A | ||
| ENST00000491154.1:n.781G>A | ||
| ENST00000630693.2:c.309G>A | ENSP00000486715.1:p.Lys103= | |
| NM_001493.2:c.309G>A | NP_001484.1:p.Lys103= | |
| NM_001493.3:c.309G>A MANE Select | NP_001484.1:p.Lys103= |