Linked Data
ClinVar Variation Id:
1055539
ClinVar RCV Id:
RCV001364225
dbSNP Id:
rs104894246
ExAC:
11:128709555 G / C
gnomAD v3:
11-128839660-G-C
gnomAD v4:
11-128839660-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839660G>C , CM000673.2:g.128839660G>C | GRCh38 |
| NC_000011.9:g.128709555G>C , CM000673.1:g.128709555G>C | GRCh37 |
| NC_000011.8:g.128214765G>C | NCBI36 |
| NG_009379.1:g.32714C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.584C>G MANE Select | ENSP00000376434.1:p.Ala195Gly | |
| ENST00000324036.7:c.584C>G | ENSP00000316233.3:p.Ala195Gly | |
| ENST00000392664.2:c.641C>G | ENSP00000376432.2:p.Ala214Gly | |
| ENST00000392665.6:c.584C>G | ENSP00000376433.2:p.Ala195Gly | |
| ENST00000392666.5:c.584C>G | ENSP00000376434.1:p.Ala195Gly | |
| ENST00000440599.6:c.584C>G | ENSP00000406320.2:p.Ala195Gly | |
| NM_000220.4:c.641C>G | NP_000211.1:p.Ala214Gly | |
| NM_153764.2:c.584C>G | NP_722448.1:p.Ala195Gly | |
| NM_153765.2:c.635C>G | NP_722449.3:p.Ala212Gly | |
| NM_153766.2:c.584C>G | NP_722450.1:p.Ala195Gly | |
| NM_153767.3:c.584C>G | NP_722451.1:p.Ala195Gly | |
| NM_000220.6:c.641C>G | NP_000211.1:p.Ala214Gly | |
| NM_153764.3:c.584C>G | NP_722448.1:p.Ala195Gly | |
| NM_153765.3:c.635C>G | NP_722449.3:p.Ala212Gly | |
| NM_153766.3:c.584C>G MANE Select | NP_722450.1:p.Ala195Gly | |
| NM_153767.4:c.584C>G | NP_722451.1:p.Ala195Gly |