Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109870662G>C , CM000666.2:g.109870662G>C | GRCh38 |
| NC_000004.11:g.110791818G>C , CM000666.1:g.110791818G>C | GRCh37 |
| NC_000004.10:g.111011267G>C | NCBI36 |
| NG_033249.1:g.27479G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.1913G>C MANE Select | NP_940908.3:p.Ser638Thr |
| ENST00000594814.6:c.1913G>C MANE Select | ENSP00000469759.1:p.Ser638Thr |
| NM_198506.4:c.1913G>C | NP_940908.3:p.Ser638Thr |
| ENST00000327908.3:c.1364G>C | ENSP00000328222.3:p.Ser455Thr |
| ENST00000594814.5:c.1913G>C | ENSP00000469759.1:p.Ser638Thr |
| XM_005262979.2:c.1364G>C | XP_005263036.1:p.Ser455Thr |
| XM_017008167.1:c.1364G>C | XP_016863656.1:p.Ser455Thr |