Linked Data
ClinVar Variation Id:
2137281
ClinVar RCV Id:
RCV003062473
dbSNP Id:
rs200154950
ExAC:
11:128709643 G / A
gnomAD v2:
11-128709643-G-A
gnomAD v3:
11-128839748-G-A
gnomAD v4:
11-128839748-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839748G>A , CM000673.2:g.128839748G>A | GRCh38 |
| NC_000011.9:g.128709643G>A , CM000673.1:g.128709643G>A | GRCh37 |
| NC_000011.8:g.128214853G>A | NCBI36 |
| NG_009379.1:g.32626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.496C>T MANE Select | ENSP00000376434.1:p.Pro166Ser | |
| ENST00000324036.7:c.496C>T | ENSP00000316233.3:p.Pro166Ser | |
| ENST00000392664.2:c.553C>T | ENSP00000376432.2:p.Pro185Ser | |
| ENST00000392665.6:c.496C>T | ENSP00000376433.2:p.Pro166Ser | |
| ENST00000392666.5:c.496C>T | ENSP00000376434.1:p.Pro166Ser | |
| ENST00000440599.6:c.496C>T | ENSP00000406320.2:p.Pro166Ser | |
| NM_000220.4:c.553C>T | NP_000211.1:p.Pro185Ser | |
| NM_153764.2:c.496C>T | NP_722448.1:p.Pro166Ser | |
| NM_153765.2:c.547C>T | NP_722449.3:p.Pro183Ser | |
| NM_153766.2:c.496C>T | NP_722450.1:p.Pro166Ser | |
| NM_153767.3:c.496C>T | NP_722451.1:p.Pro166Ser | |
| NM_000220.6:c.553C>T | NP_000211.1:p.Pro185Ser | |
| NM_153764.3:c.496C>T | NP_722448.1:p.Pro166Ser | |
| NM_153765.3:c.547C>T | NP_722449.3:p.Pro183Ser | |
| NM_153766.3:c.496C>T MANE Select | NP_722450.1:p.Pro166Ser | |
| NM_153767.4:c.496C>T | NP_722451.1:p.Pro166Ser |