Linked Data
dbSNP Id:
rs1374379212
gnomAD v3:
17-15999866-C-T
gnomAD v4:
17-15999866-C-T
MyVariant Identifiers:
chr17:g.15903180C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999866C>T , CM000679.2:g.15999866C>T | GRCh38 |
| NC_000017.10:g.15903180C>T , CM000679.1:g.15903180C>T | GRCh37 |
| NC_000017.9:g.15843905C>T | NCBI36 |
| NG_029806.1:g.5487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.18C>T MANE Select | ENSP00000261647.5:p.Ser6= | |
| ENST00000261647.9:c.18C>T | ENSP00000261647.5:p.Ser6= | |
| ENST00000466729.5:c.83C>T | ||
| ENST00000470399.1:c.33C>T | ENSP00000465082.1:p.Ser11= | |
| ENST00000475723.5:c.65C>T | ||
| ENST00000497842.6:n.43C>T | ||
| ENST00000583704.1:n.43C>T | ||
| NM_001271420.1:c.-441C>T | NP_001258349.1:n.-441C>T | |
| NM_017775.3:c.18C>T | NP_060245.3:p.Ser6= | |
| XM_011523950.1:c.18C>T | XP_011522252.1:p.Ser6= | |
| XM_017024801.2:c.18C>T | XP_016880290.2:p.Ser6= | |
| XM_017024802.2:c.18C>T | XP_016880291.2:p.Ser6= | |
| XM_024450814.1:c.18C>T | XP_024306582.1:p.Ser6= | |
| NM_017775.4:c.18C>T MANE Select | NP_060245.3:p.Ser6= | |
| NM_001271420.2:c.-441C>T | NP_001258349.1:n.-441C>T |