Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753378T= , CM000674.2:g.101753378T= | GRCh38 |
| NC_000012.11:g.102147156T= , CM000674.1:g.102147156T= | GRCh37 |
| NC_000012.10:g.100671287T= | NCBI36 |
| NG_021243.1:g.82490A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3596A= MANE Select | ENSP00000299314.7:p.Gln1199= | |
| ENST00000299314.11:c.3596A= | ENSP00000299314.7:p.Gln1199= | |
| ENST00000549738.5:c.494A= | ENSP00000450161.1:n.494A= | |
| NM_024312.4:c.3596A= | NP_077288.2:p.Gln1199= | |
| XM_011538731.1:c.3515A= | XP_011537033.1:p.Gln1172= | |
| XM_011538731.2:c.3515A= | XP_011537033.1:p.Gln1172= | |
| XM_017019961.1:c.3380A= | XP_016875450.1:p.Gln1127= | |
| XM_017019962.2:c.2369A= | XP_016875451.1:p.Gln790= | |
| NM_024312.5:c.3596A= MANE Select | NP_077288.2:p.Gln1199= |