Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30171922G= , CM000668.2:g.30171922G= | GRCh38 |
| NC_000006.11:g.30139699G= , CM000668.1:g.30139699G= | GRCh37 |
| NC_000006.10:g.30247678G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033229.3:c.971G= MANE Select | NP_150232.2:p.Ser324= |
| ENST00000376694.9:c.971G= MANE Select | ENSP00000365884.4:p.Ser324= |
| NM_033229.2:c.971G= | NP_150232.2:p.Ser324= |
| ENST00000376688.2:c.305-642G= | ENSP00000365878.2:n.305-642G= |
| ENST00000376694.8:c.971G= | ENSP00000365884.4:p.Ser324= |
| ENST00000433744.1:c.458G= | |
| ENST00000619857.4:c.764G= | ENSP00000484001.1:p.Ser255= |
| XM_011514987.1:c.656G= | XP_011513289.1:p.Ser219= |
| XM_011514988.1:c.350G= | XP_011513290.1:p.Ser117= |
| XM_011514988.2:c.350G= | XP_011513290.1:p.Ser117= |