Linked Data
ClinVar Variation Id:
1520034
ClinVar RCV Id:
RCV002024878
dbSNP Id:
rs2141665051
gnomAD v4:
16-3243554-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243554A>G , CM000678.2:g.3243554A>G | GRCh38 |
| NC_000016.9:g.3293554A>G , CM000678.1:g.3293554A>G | GRCh37 |
| NC_000016.8:g.3233555A>G | NCBI36 |
| NG_007871.1:g.18074T>C , LRG_190:g.18074T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1054T>C | ||
| ENST00000219596.6:c.1933T>C MANE Select | ENSP00000219596.1:p.Ser645Pro | |
| ENST00000219596.5:c.1933T>C | ENSP00000219596.1:p.Ser645Pro | |
| ENST00000339854.8:c.1393T>C | ENSP00000339639.4:p.Ser465Pro | |
| ENST00000536379.5:c.1300T>C | ENSP00000445079.1:p.Ser434Pro | |
| ENST00000536980.5:c.*209T>C | ENSP00000444178.1:n.*209T>C | |
| ENST00000537682.5:c.*209T>C | ENSP00000438611.1:n.*209T>C | |
| ENST00000538326.5:c.*558T>C | ENSP00000437486.1:n.*558T>C | |
| ENST00000539145.5:c.854T>C | ENSP00000444471.1:n.854T>C | |
| ENST00000541159.5:c.1475T>C | ENSP00000438711.1:n.1475T>C | |
| ENST00000542898.5:c.*209T>C | ENSP00000444615.1:n.*209T>C | |
| ENST00000570511.5:c.1338T>C | ENSP00000458312.1:n.1338T>C | |
| ENST00000572244.5:c.623T>C | ENSP00000461186.1:n.623T>C | |
| ENST00000574583.5:c.705T>C | ENSP00000460269.1:n.705T>C | |
| ENST00000576315.5:c.738T>C | ENSP00000460551.1:n.738T>C | |
| ENST00000621655.1:c.1470T>C | ENSP00000481436.1:n.1470T>C | |
| NM_000243.2:c.1933T>C , LRG_190t1:c.1933T>C | NP_000234.1:p.Ser645Pro | |
| NM_001198536.1:c.*137T>C | NP_001185465.1:n.*137T>C | |
| XM_017023236.2:c.1930T>C | XP_016878725.1:p.Ser644Pro | |
| NM_000243.3:c.1933T>C MANE Select | NP_000234.1:p.Ser645Pro | |
| NM_001198536.2:c.*137T>C | NP_001185465.2:n.*137T>C |