Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.81752010A>G , CM000668.2:g.81752010A>G | GRCh38 |
| NC_000006.11:g.82461727A>G , CM000668.1:g.82461727A>G | GRCh37 |
| NC_000006.10:g.82518446A>G | NCBI36 |
| NG_056210.1:g.5702T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017633.3:c.132T>C MANE Select | NP_060103.2:p.Gly44= |
| ENST00000320172.11:c.132T>C MANE Select | ENSP00000318298.6:p.Gly44= |
| NM_017633.2:c.132T>C | NP_060103.2:p.Gly44= |
| ENST00000320172.10:c.132T>C | ENSP00000318298.6:p.Gly44= |
| ENST00000369754.7:c.189T>C | ENSP00000358769.3:p.Gly63= |
| ENST00000369756.3:c.375T>C | ENSP00000358771.3:p.Gly125= |