Linked Data
dbSNP Id:
rs1320
ExAC:
22:22599537 G / A
gnomAD v2:
22-22599537-G-A
gnomAD v3:
22-22245125-G-A
gnomAD v4:
22-22245125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.22245125G>A , CM000684.2:g.22245125G>A | GRCh38 |
| NC_000022.10:g.22599537G>A , CM000684.1:g.22599537G>A | GRCh37 |
| NC_000022.9:g.20929537G>A | NCBI36 |
| NG_029387.2:g.5336G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403807.4:c.226G>A MANE Select | ENSP00000385361.3:p.Asp76Asn | |
| ENST00000302273.2:c.223G>A | ENSP00000304590.2:p.Asp75Asn | |
| ENST00000403807.3:c.226G>A | ENSP00000385361.3:p.Asp76Asn | |
| NM_001303509.1:c.223G>A | NP_001290438.1:p.Asp75Asn | |
| NM_007128.3:c.226G>A | NP_009059.1:p.Asp76Asn | |
| NM_001303509.2:c.223G>A | NP_001290438.1:p.Asp75Asn | |
| NM_007128.4:c.226G>A MANE Select | NP_009059.1:p.Asp76Asn |