Linked Data
dbSNP Id:
rs750555631
ExAC:
20:23618304 C / T
gnomAD v2:
20-23618304-C-T
gnomAD v3:
20-23637667-C-T
gnomAD v4:
20-23637667-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23637667C>T , CM000682.2:g.23637667C>T | GRCh38 |
| NC_000020.10:g.23618304C>T , CM000682.1:g.23618304C>T | GRCh37 |
| NC_000020.9:g.23566304C>T | NCBI36 |
| NG_012887.2:g.5271G>A | |
| NG_012887.3:g.5271G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376925.8:c.196G>A MANE Select | ENSP00000366124.3:p.Asp66Asn | |
| ENST00000376925.7:c.196G>A | ENSP00000366124.3:p.Asp66Asn | |
| ENST00000398409.1:c.196G>A | ENSP00000381446.1:p.Asp66Asn | |
| ENST00000398411.5:c.196G>A | ENSP00000381448.1:p.Asp66Asn | |
| NM_000099.3:c.196G>A | NP_000090.1:p.Asp66Asn | |
| NM_001288614.1:c.196G>A | NP_001275543.1:p.Asp66Asn | |
| NM_000099.4:c.196G>A MANE Select | NP_000090.1:p.Asp66Asn | |
| NM_001288614.2:c.196G>A | NP_001275543.1:p.Asp66Asn |