Linked Data
ClinVar Variation Id:
1176906
ClinVar RCV Id:
RCV001532644
dbSNP Id:
rs1484150455
gnomAD v2:
11-65423192-G-A
gnomAD v3:
11-65655721-G-A
gnomAD v4:
11-65655721-G-A
COSMIC:
COSM5892150
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65655721G>A , CM000673.2:g.65655721G>A | GRCh38 |
| NC_000011.9:g.65423192G>A , CM000673.1:g.65423192G>A | GRCh37 |
| NC_000011.8:g.65179768G>A | NCBI36 |
| NG_029971.1:g.12252C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406246.8:c.1000C>T MANE Select | ENSP00000384273.3:p.Pro334Ser | |
| ENST00000308639.13:c.991C>T | ENSP00000311508.9:p.Pro331Ser | |
| ENST00000406246.7:c.1000C>T | ENSP00000384273.3:p.Pro334Ser | |
| ENST00000525693.5:c.1000C>T | ENSP00000432537.1:p.Pro334Ser | |
| ENST00000526257.1:c.201C>T | ||
| ENST00000526283.6:c.*104C>T | ENSP00000435290.1:n.*104C>T | |
| ENST00000531484.5:n.1184C>T | ||
| ENST00000532999.5:c.1033C>T | ENSP00000433526.1:p.Pro345Ser | |
| ENST00000612991.4:c.1000C>T | ENSP00000483705.1:p.Pro334Ser | |
| ENST00000615805.4:c.676-17C>T | ENSP00000479572.1:n.676-17C>T | |
| NM_001145138.1:c.991C>T | NP_001138610.1:p.Pro331Ser | |
| NM_001243984.1:c.1000C>T | NP_001230913.1:p.Pro334Ser | |
| NM_001243985.1:c.1000C>T | NP_001230914.1:p.Pro334Ser | |
| NM_021975.3:c.1000C>T | NP_068810.3:p.Pro334Ser | |
| XM_011545206.1:c.787C>T | XP_011543508.1:p.Pro263Ser | |
| XM_011545207.1:c.682C>T | XP_011543509.1:p.Pro228Ser | |
| XM_011545206.2:c.787C>T | XP_011543508.1:p.Pro263Ser | |
| XM_011545207.2:c.682C>T | XP_011543509.1:p.Pro228Ser | |
| NM_021975.4:c.1000C>T MANE Select | NP_068810.3:p.Pro334Ser | |
| NM_001145138.2:c.991C>T | NP_001138610.1:p.Pro331Ser | |
| NM_001243984.2:c.1000C>T | NP_001230913.1:p.Pro334Ser | |
| NM_001243985.2:c.1000C>T | NP_001230914.1:p.Pro334Ser |