Linked Data
dbSNP Id:
rs773114532
ExAC:
17:39768890 G / A
gnomAD v2:
17-39768890-G-A
gnomAD v4:
17-41612638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612638G>A , CM000679.2:g.41612638G>A | GRCh38 |
| NC_000017.10:g.39768890G>A , CM000679.1:g.39768890G>A | GRCh37 |
| NC_000017.9:g.37022416G>A | NCBI36 |
| NG_008301.1:g.5190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.51C>T MANE Select | ENSP00000301653.3:p.Ser17= | |
| ENST00000301653.8:c.51C>T | ENSP00000301653.3:p.Ser17= | |
| ENST00000588319.1:n.128C>T | ||
| ENST00000590990.1:c.51C>T | ENSP00000467105.1:p.Ser17= | |
| ENST00000593067.1:c.-313+152C>T | ENSP00000467124.1:n.-313+152C>T | |
| NM_005557.3:c.51C>T | NP_005548.2:p.Ser17= | |
| NM_005557.4:c.51C>T MANE Select | NP_005548.2:p.Ser17= |