Linked Data
ClinVar Variation Id:
303570
dbSNP Id:
rs147861417
ExAC:
11:128709302 A / G
gnomAD v2:
11-128709302-A-G
gnomAD v3:
11-128839407-A-G
gnomAD v4:
11-128839407-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839407A>G , CM000673.2:g.128839407A>G | GRCh38 |
| NC_000011.9:g.128709302A>G , CM000673.1:g.128709302A>G | GRCh37 |
| NC_000011.8:g.128214512A>G | NCBI36 |
| NG_009379.1:g.32967T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.837T>C MANE Select | ENSP00000376434.1:p.Asp279= | |
| ENST00000324036.7:c.837T>C | ENSP00000316233.3:p.Asp279= | |
| ENST00000392664.2:c.894T>C | ENSP00000376432.2:p.Asp298= | |
| ENST00000392665.6:c.837T>C | ENSP00000376433.2:p.Asp279= | |
| ENST00000392666.5:c.837T>C | ENSP00000376434.1:p.Asp279= | |
| ENST00000440599.6:c.837T>C | ENSP00000406320.2:p.Asp279= | |
| NM_000220.4:c.894T>C | NP_000211.1:p.Asp298= | |
| NM_153764.2:c.837T>C | NP_722448.1:p.Asp279= | |
| NM_153765.2:c.888T>C | NP_722449.3:p.Asp296= | |
| NM_153766.2:c.837T>C | NP_722450.1:p.Asp279= | |
| NM_153767.3:c.837T>C | NP_722451.1:p.Asp279= | |
| NM_000220.6:c.894T>C | NP_000211.1:p.Asp298= | |
| NM_153764.3:c.837T>C | NP_722448.1:p.Asp279= | |
| NM_153765.3:c.888T>C | NP_722449.3:p.Asp296= | |
| NM_153766.3:c.837T>C MANE Select | NP_722450.1:p.Asp279= | |
| NM_153767.4:c.837T>C | NP_722451.1:p.Asp279= |