Linked Data
dbSNP Id:
rs140398555
ExAC:
16:2036000 G / A
gnomAD v2:
16-2036000-G-A
gnomAD v3:
16-1985999-G-A
gnomAD v4:
16-1985999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985999G>A , CM000678.2:g.1985999G>A | GRCh38 |
| NC_000016.9:g.2036000G>A , CM000678.1:g.2036000G>A | GRCh37 |
| NC_000016.8:g.1976001G>A | NCBI36 |
| NG_016288.1:g.6851G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567719.2:c.364G>A | ENSP00000455885.1:p.Asp122Asn | |
| ENST00000248114.7:c.589G>A MANE Select | ENSP00000248114.6:p.Asp197Asn | |
| ENST00000248114.6:c.589G>A | ENSP00000248114.6:p.Asp197Asn | |
| ENST00000565658.1:n.746G>A | ||
| ENST00000567719.1:c.364G>A | ENSP00000455885.1:p.Asp122Asn | |
| ENST00000569451.1:c.*62G>A | ENSP00000456432.1:n.*62G>A | |
| NM_005262.2:c.589G>A | NP_005253.3:p.Asp197Asn | |
| NM_005262.3:c.589G>A MANE Select | NP_005253.3:p.Asp197Asn |