Linked Data
dbSNP Id:
rs748609408
ExAC:
2:233406211 G / A
gnomAD v2:
2-233406211-G-A
gnomAD v3:
2-232541501-G-A
gnomAD v4:
2-232541501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541501G>A , CM000664.2:g.232541501G>A | GRCh38 |
| NC_000002.11:g.233406211G>A , CM000664.1:g.233406211G>A | GRCh37 |
| NC_000002.10:g.233114455G>A | NCBI36 |
| NG_012954.1:g.6775G>A | |
| NG_012954.2:g.6810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.478G>A MANE Select | ENSP00000498757.1:p.Asp160Asn | |
| ENST00000389492.3:c.350+790G>A | ENSP00000374143.3:n.350+790G>A | |
| ENST00000389494.7:c.478G>A | ENSP00000374145.3:p.Asp160Asn | |
| ENST00000485094.1:n.499G>A | ||
| NM_005199.4:c.478G>A | NP_005190.4:p.Asp160Asn | |
| NM_005199.5:c.478G>A MANE Select | NP_005190.4:p.Asp160Asn |