Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622690C>G , CM000670.2:g.10622690C>G | GRCh38 |
| NC_000008.10:g.10480200C>G , CM000670.1:g.10480200C>G | GRCh37 |
| NC_000008.9:g.10517610C>G | NCBI36 |
| NG_028035.1:g.37418G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.512G>C MANE Select | ENSP00000371923.3:p.Ser171Thr | |
| ENST00000329335.3:n.762G>C | ||
| ENST00000382483.3:c.512G>C | ENSP00000371923.3:p.Ser171Thr | |
| NM_178857.5:c.512G>C | NP_849188.4:p.Ser171Thr | |
| NM_178857.6:c.512G>C MANE Select | NP_849188.4:p.Ser171Thr |