Linked Data
ClinVar Variation Id:
452370
dbSNP Id:
rs145884404
ExAC:
2:238249716 C / T
gnomAD v2:
2-238249716-C-T
gnomAD v3:
2-237341073-C-T
gnomAD v4:
2-237341073-C-T
COSMIC:
COSM4092633
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237341073C>T , CM000664.2:g.237341073C>T | GRCh38 |
| NC_000002.11:g.238249716C>T , CM000664.1:g.238249716C>T | GRCh37 |
| NC_000002.10:g.237914455C>T | NCBI36 |
| NG_008676.1:g.78135G>A , LRG_473:g.78135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.488G>A | ||
| ENST00000353578.9:c.7225G>A | ENSP00000315873.4:p.Asp2409Asn | |
| ENST00000684508.1:n.110G>A | ||
| ENST00000295550.9:c.7843G>A MANE Select | ENSP00000295550.4:p.Asp2615Asn | |
| ENST00000295550.8:c.7843G>A | ENSP00000295550.4:p.Asp2615Asn | |
| ENST00000347401.7:c.6019G>A | ENSP00000315609.4:p.Asp2007Asn | |
| ENST00000353578.8:c.7225G>A | ENSP00000315873.4:p.Asp2409Asn | |
| ENST00000409809.5:c.7225G>A | ENSP00000386844.1:p.Asp2409Asn | |
| ENST00000472056.5:c.6022G>A | ENSP00000418285.1:p.Asp2008Asn | |
| ENST00000491769.1:n.4285G>A | ||
| NM_004369.3:c.7843G>A , LRG_473t1:c.7843G>A | NP_004360.2:p.Asp2615Asn | |
| NM_057166.4:c.6022G>A | NP_476507.3:p.Asp2008Asn | |
| NM_057167.3:c.7225G>A | NP_476508.2:p.Asp2409Asn | |
| XM_005246065.1:c.7243G>A | XP_005246122.1:p.Asp2415Asn | |
| XM_005246066.1:c.6622G>A | XP_005246123.1:p.Asp2208Asn | |
| XM_006712253.1:c.7342G>A | XP_006712316.1:p.Asp2448Asn | |
| XM_011510574.1:c.7840G>A | XP_011508876.1:p.Asp2614Asn | |
| XM_011510575.1:c.5437G>A | XP_011508877.1:p.Asp1813Asn | |
| XM_017003304.1:c.5437G>A | XP_016858793.1:p.Asp1813Asn | |
| XM_024452684.1:c.6622G>A | XP_024308452.1:p.Asp2208Asn | |
| NM_004369.4:c.7843G>A MANE Select | NP_004360.2:p.Asp2615Asn | |
| NM_057166.5:c.6022G>A | NP_476507.3:p.Asp2008Asn | |
| NM_057167.4:c.7225G>A | NP_476508.2:p.Asp2409Asn |