Linked Data
ClinVar Variation Id:
2133511
ClinVar RCV Id:
RCV003040969
dbSNP Id:
rs779778381
gnomAD v3:
16-1361880-A-C
gnomAD v4:
16-1361880-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361880A>C , CM000678.2:g.1361880A>C | GRCh38 |
| NC_000016.9:g.1411881A>C , CM000678.1:g.1411881A>C | GRCh37 |
| NC_000016.8:g.1351882A>C | NCBI36 |
| NG_016985.1:g.14982A>C | |
| NG_033129.1:g.57825T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.341A>C | ||
| ENST00000529110.2:c.326A>C | ENSP00000435349.2:p.Tyr109Ser | |
| ENST00000529957.6:n.300A>C | ||
| ENST00000683366.1:c.187A>C | ENSP00000507283.1:p.Met63Leu | |
| ENST00000683887.1:c.290A>C | ENSP00000506886.1:p.Tyr97Ser | |
| ENST00000684100.1:n.236A>C | ||
| ENST00000684126.1:n.300A>C | ||
| ENST00000684688.1:n.867A>C | ||
| ENST00000204679.9:c.242A>C MANE Select | ENSP00000204679.4:p.Tyr81Ser | |
| ENST00000204679.8:c.242A>C | ENSP00000204679.4:p.Tyr81Ser | |
| ENST00000526820.5:c.*144A>C | ENSP00000434413.1:n.*144A>C | |
| ENST00000527076.1:n.1258A>C | ||
| ENST00000527168.5:n.278A>C | ||
| ENST00000529110.1:c.309A>C | ||
| ENST00000529957.5:n.341A>C | ||
| NM_032520.4:c.242A>C | NP_115909.1:p.Tyr81Ser | |
| XM_017023782.1:c.290A>C | XP_016879271.1:p.Tyr97Ser | |
| XM_017023783.1:c.-119A>C | XP_016879272.1:n.-119A>C | |
| NM_032520.5:c.242A>C MANE Select | NP_115909.1:p.Tyr81Ser |