Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65197350T= , CM000677.2:g.65197350T= | GRCh38 |
| NC_000015.9:g.65489688T= , CM000677.1:g.65489688T= | GRCh37 |
| NC_000015.8:g.63276741T= | NCBI36 |
| NG_012214.1:g.19153A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003613.4:c.2936A= MANE Select | NP_003604.4:p.Gln979= |
| ENST00000261883.6:c.2936A= MANE Select | ENSP00000261883.4:p.Gln979= |
| NM_003613.3:c.2936A= | NP_003604.3:p.Gln979= |
| ENST00000261883.5:c.2936A= | ENSP00000261883.4:p.Gln979= |
| XM_017022678.2:c.3017A= | XP_016878167.1:p.Gln1006= |
| XM_017022679.1:c.2864A= | XP_016878168.1:p.Gln955= |