Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144474962G>C , CM000670.2:g.144474962G>C | GRCh38 |
| NC_000008.10:g.145700345G>C , CM000670.1:g.145700345G>C | GRCh37 |
| NC_000008.9:g.145671153G>C | NCBI36 |
| NG_030003.1:g.6374C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377317.5:c.374C>G MANE Select | ENSP00000366534.4:p.Thr125Ser | |
| ENST00000377317.4:c.374C>G | ENSP00000366534.4:p.Thr125Ser | |
| ENST00000525197.1:n.403C>G | ||
| NM_003923.2:c.374C>G | NP_003914.1:p.Thr125Ser | |
| NM_003923.3:c.374C>G MANE Select | NP_003914.1:p.Thr125Ser |