Linked Data
dbSNP Id:
rs573603070
ExAC:
2:113514380 C / T
gnomAD v2:
2-113514380-C-T
gnomAD v3:
2-112756803-C-T
gnomAD v4:
2-112756803-C-T
COSMIC:
COSM1398881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756803C>T , CM000664.2:g.112756803C>T | GRCh38 |
| NC_000002.11:g.113514380C>T , CM000664.1:g.113514380C>T | GRCh37 |
| NC_000002.10:g.113230851C>T | NCBI36 |
| NG_041820.1:g.12875G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.568G>A MANE Select | ENSP00000305204.6:p.Asp190Asn | |
| ENST00000302450.10:c.568G>A | ENSP00000305204.6:p.Asp190Asn | |
| ENST00000435431.5:c.478+90G>A | ENSP00000414834.1:n.478+90G>A | |
| ENST00000481732.5:n.529G>A | ||
| NM_001304361.1:c.73G>A | NP_001291290.1:p.Asp25Asn | |
| NM_152515.4:c.568G>A | NP_689728.3:p.Asp190Asn | |
| NR_130712.1:n.557+90G>A | ||
| XM_011510666.1:c.73G>A | XP_011508968.1:p.Asp25Asn | |
| XM_011510666.2:c.73G>A | XP_011508968.1:p.Asp25Asn | |
| NM_152515.5:c.568G>A MANE Select | NP_689728.3:p.Asp190Asn | |
| NM_001304361.2:c.73G>A | NP_001291290.1:p.Asp25Asn | |
| NR_130712.2:n.489+90G>A |