Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753435G= , CM000674.2:g.101753435G= | GRCh38 |
| NC_000012.11:g.102147213G= , CM000674.1:g.102147213G= | GRCh37 |
| NC_000012.10:g.100671344G= | NCBI36 |
| NG_021243.1:g.82433C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024312.5:c.3539C= MANE Select | NP_077288.2:p.Ser1180= |
| ENST00000299314.12:c.3539C= MANE Select | ENSP00000299314.7:p.Ser1180= |
| NM_024312.4:c.3539C= | NP_077288.2:p.Ser1180= |
| ENST00000299314.11:c.3539C= | ENSP00000299314.7:p.Ser1180= |
| ENST00000549738.5:c.437C= | ENSP00000450161.1:n.437C= |
| XM_011538731.1:c.3458C= | XP_011537033.1:p.Ser1153= |
| XM_011538731.2:c.3458C= | XP_011537033.1:p.Ser1153= |
| XM_017019961.1:c.3323C= | XP_016875450.1:p.Ser1108= |
| XM_017019962.2:c.2312C= | XP_016875451.1:p.Ser771= |