Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753539C>T , CM000674.2:g.101753539C>T | GRCh38 |
| NC_000012.11:g.102147317C>T , CM000674.1:g.102147317C>T | GRCh37 |
| NC_000012.10:g.100671448C>T | NCBI36 |
| NG_021243.1:g.82329G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024312.5:c.3435G>A MANE Select | NP_077288.2:p.Arg1145= |
| ENST00000299314.12:c.3435G>A MANE Select | ENSP00000299314.7:p.Arg1145= |
| NM_024312.4:c.3435G>A | NP_077288.2:p.Arg1145= |
| ENST00000299314.11:c.3435G>A | ENSP00000299314.7:p.Arg1145= |
| ENST00000549738.5:c.333G>A | ENSP00000450161.1:n.333G>A |
| XM_011538731.1:c.3354G>A | XP_011537033.1:p.Arg1118= |
| XM_011538731.2:c.3354G>A | XP_011537033.1:p.Arg1118= |
| XM_017019961.1:c.3219G>A | XP_016875450.1:p.Arg1073= |
| XM_017019962.2:c.2208G>A | XP_016875451.1:p.Arg736= |