Linked Data
dbSNP Id:
rs748436635
ExAC:
17:15903212 C / T
gnomAD v3:
17-15999898-C-T
gnomAD v4:
17-15999898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999898C>T , CM000679.2:g.15999898C>T | GRCh38 |
| NC_000017.10:g.15903212C>T , CM000679.1:g.15903212C>T | GRCh37 |
| NC_000017.9:g.15843937C>T | NCBI36 |
| NG_029806.1:g.5519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.50C>T MANE Select | ENSP00000261647.5:p.Ala17Val | |
| ENST00000261647.9:c.50C>T | ENSP00000261647.5:p.Ala17Val | |
| ENST00000466729.5:c.115C>T | ||
| ENST00000470399.1:c.65C>T | ENSP00000465082.1:p.Ala22Val | |
| ENST00000475723.5:c.97C>T | ||
| ENST00000497842.6:n.75C>T | ||
| ENST00000583704.1:n.75C>T | ||
| NM_001271420.1:c.-409C>T | NP_001258349.1:n.-409C>T | |
| NM_017775.3:c.50C>T | NP_060245.3:p.Ala17Val | |
| XM_011523950.1:c.50C>T | XP_011522252.1:p.Ala17Val | |
| XM_017024801.2:c.50C>T | XP_016880290.2:p.Ala17Val | |
| XM_017024802.2:c.50C>T | XP_016880291.2:p.Ala17Val | |
| XM_024450814.1:c.50C>T | XP_024306582.1:p.Ala17Val | |
| NM_017775.4:c.50C>T MANE Select | NP_060245.3:p.Ala17Val | |
| NM_001271420.2:c.-409C>T | NP_001258349.1:n.-409C>T |