Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78522695C>T , CM000666.2:g.78522695C>T | GRCh38 |
| NC_000004.11:g.79443849C>T , CM000666.1:g.79443849C>T | GRCh37 |
| NC_000004.10:g.79662873C>T | NCBI36 |
| NG_015812.1:g.470126C>T | |
| NG_015812.2:g.470126C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025074.7:c.10695C>T MANE Select | NP_079350.5:p.Phe3565= |
| ENST00000512123.4:c.10695C>T MANE Select | ENSP00000422834.2:p.Phe3565= |
| NM_025074.6:c.10695C>T | NP_079350.5:p.Phe3565= |
| ENST00000512123.3:c.10695C>T | ENSP00000422834.2:p.Phe3565= |
| XM_006714314.1:c.10689C>T | XP_006714377.1:p.Phe3563= |
| XM_006714316.1:c.10467C>T | XP_006714379.1:p.Phe3489= |
| XM_006714316.3:c.10467C>T | XP_006714379.1:p.Phe3489= |
| XM_011532270.1:c.8394C>T | XP_011530572.1:p.Phe2798= |
| XM_011532271.1:c.5583C>T | XP_011530573.1:p.Phe1861= |