Linked Data
dbSNP Id:
rs748989338
ExAC:
8:77776578 C / T
gnomAD v2:
8-77776578-C-T
gnomAD v4:
8-76864342-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76864342C>T , CM000670.2:g.76864342C>T | GRCh38 |
| NC_000008.10:g.77776578C>T , CM000670.1:g.77776578C>T | GRCh37 |
| NC_000008.9:g.77939133C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651372.2:c.10628C>T MANE Select | ENSP00000498627.1:p.Ser3543Phe | |
| ENST00000518282.5:c.10550C>T | ENSP00000430848.1:p.Ser3517Phe | |
| ENST00000521891.6:c.10628C>T | ENSP00000430497.2:p.Ser3543Phe | |
| NM_024721.4:c.10628C>T | NP_078997.4:p.Ser3543Phe | |
| XM_011517592.1:c.10628C>T | XP_011515894.1:p.Ser3543Phe | |
| XM_011517593.1:c.10628C>T | XP_011515895.1:p.Ser3543Phe | |
| XM_011517594.1:c.10628C>T | XP_011515896.1:p.Ser3543Phe | |
| XM_011517595.1:c.10628C>T | XP_011515897.1:p.Ser3543Phe | |
| XM_011517596.1:c.10550C>T | XP_011515898.1:p.Ser3517Phe | |
| XM_011517597.1:c.10511C>T | XP_011515899.1:p.Ser3504Phe | |
| XM_011517592.3:c.10628C>T | XP_011515894.1:p.Ser3543Phe | |
| XM_011517593.2:c.10628C>T | XP_011515895.1:p.Ser3543Phe | |
| XM_011517594.2:c.10628C>T | XP_011515896.1:p.Ser3543Phe | |
| XM_011517595.2:c.10628C>T | XP_011515897.1:p.Ser3543Phe | |
| XM_011517596.2:c.10550C>T | XP_011515898.1:p.Ser3517Phe | |
| XM_011517597.2:c.10511C>T | XP_011515899.1:p.Ser3504Phe | |
| XM_017013845.1:c.10433C>T | XP_016869334.1:p.Ser3478Phe | |
| NM_024721.5:c.10628C>T MANE Select | NP_078997.4:p.Ser3543Phe |