Linked Data
dbSNP Id:
rs550775797
gnomAD v2:
17-15903185-G-T
gnomAD v3:
17-15999871-G-T
gnomAD v4:
17-15999871-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999871G>T , CM000679.2:g.15999871G>T | GRCh38 |
| NC_000017.10:g.15903185G>T , CM000679.1:g.15903185G>T | GRCh37 |
| NC_000017.9:g.15843910G>T | NCBI36 |
| NG_029806.1:g.5492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.23G>T MANE Select | ENSP00000261647.5:p.Ser8Ile | |
| ENST00000261647.9:c.23G>T | ENSP00000261647.5:p.Ser8Ile | |
| ENST00000466729.5:c.88G>T | ||
| ENST00000470399.1:c.38G>T | ENSP00000465082.1:p.Ser13Ile | |
| ENST00000475723.5:c.70G>T | ||
| ENST00000497842.6:n.48G>T | ||
| ENST00000583704.1:n.48G>T | ||
| NM_001271420.1:c.-436G>T | NP_001258349.1:n.-436G>T | |
| NM_017775.3:c.23G>T | NP_060245.3:p.Ser8Ile | |
| XM_011523950.1:c.23G>T | XP_011522252.1:p.Ser8Ile | |
| XM_017024801.2:c.23G>T | XP_016880290.2:p.Ser8Ile | |
| XM_017024802.2:c.23G>T | XP_016880291.2:p.Ser8Ile | |
| XM_024450814.1:c.23G>T | XP_024306582.1:p.Ser8Ile | |
| NM_017775.4:c.23G>T MANE Select | NP_060245.3:p.Ser8Ile | |
| NM_001271420.2:c.-436G>T | NP_001258349.1:n.-436G>T |