Linked Data
ClinVar Variation Id:
2799
dbSNP Id:
rs137852885
ExAC:
16:1411955 G / A
gnomAD v2:
16-1411955-G-A
gnomAD v3:
16-1361954-G-A
gnomAD v4:
16-1361954-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361954G>A , CM000678.2:g.1361954G>A | GRCh38 |
| NC_000016.9:g.1411955G>A , CM000678.1:g.1411955G>A | GRCh37 |
| NC_000016.8:g.1351956G>A | NCBI36 |
| NG_016985.1:g.15056G>A | |
| NG_033129.1:g.57751C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.415G>A | ||
| ENST00000529110.2:c.400G>A | ENSP00000435349.2:p.Gly134Ser | |
| ENST00000529957.6:n.374G>A | ||
| ENST00000683366.1:c.*48G>A | ENSP00000507283.1:n.*48G>A | |
| ENST00000683887.1:c.364G>A | ENSP00000506886.1:p.Gly122Ser | |
| ENST00000684100.1:n.310G>A | ||
| ENST00000684126.1:n.374G>A | ||
| ENST00000684688.1:n.941G>A | ||
| ENST00000204679.9:c.316G>A MANE Select | ENSP00000204679.4:p.Gly106Ser | |
| ENST00000204679.8:c.316G>A | ENSP00000204679.4:p.Gly106Ser | |
| ENST00000526820.5:c.*218G>A | ENSP00000434413.1:n.*218G>A | |
| ENST00000527076.1:n.1332G>A | ||
| ENST00000527168.5:n.352G>A | ||
| ENST00000529110.1:c.383G>A | ||
| ENST00000529957.5:n.415G>A | ||
| NM_032520.4:c.316G>A | NP_115909.1:p.Gly106Ser | |
| XM_017023782.1:c.364G>A | XP_016879271.1:p.Gly122Ser | |
| XM_017023783.1:c.-45G>A | XP_016879272.1:n.-45G>A | |
| NM_032520.5:c.316G>A MANE Select | NP_115909.1:p.Gly106Ser |