Linked Data
ClinVar Variation Id:
2821945
ClinVar RCV Id:
RCV003711882
dbSNP Id:
rs753312916
ExAC:
11:128709641 G / C
gnomAD v2:
11-128709641-G-C
gnomAD v4:
11-128839746-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839746G>C , CM000673.2:g.128839746G>C | GRCh38 |
| NC_000011.9:g.128709641G>C , CM000673.1:g.128709641G>C | GRCh37 |
| NC_000011.8:g.128214851G>C | NCBI36 |
| NG_009379.1:g.32628C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.498C>G MANE Select | ENSP00000376434.1:p.Pro166= | |
| ENST00000324036.7:c.498C>G | ENSP00000316233.3:p.Pro166= | |
| ENST00000392664.2:c.555C>G | ENSP00000376432.2:p.Pro185= | |
| ENST00000392665.6:c.498C>G | ENSP00000376433.2:p.Pro166= | |
| ENST00000392666.5:c.498C>G | ENSP00000376434.1:p.Pro166= | |
| ENST00000440599.6:c.498C>G | ENSP00000406320.2:p.Pro166= | |
| NM_000220.4:c.555C>G | NP_000211.1:p.Pro185= | |
| NM_153764.2:c.498C>G | NP_722448.1:p.Pro166= | |
| NM_153765.2:c.549C>G | NP_722449.3:p.Pro183= | |
| NM_153766.2:c.498C>G | NP_722450.1:p.Pro166= | |
| NM_153767.3:c.498C>G | NP_722451.1:p.Pro166= | |
| NM_000220.6:c.555C>G | NP_000211.1:p.Pro185= | |
| NM_153764.3:c.498C>G | NP_722448.1:p.Pro166= | |
| NM_153765.3:c.549C>G | NP_722449.3:p.Pro183= | |
| NM_153766.3:c.498C>G MANE Select | NP_722450.1:p.Pro166= | |
| NM_153767.4:c.498C>G | NP_722451.1:p.Pro166= |