Linked Data
ClinVar Variation Id:
714
ClinVar RCV Id:
RCV000000749
dbSNP Id:
rs118204447
ExAC:
16:88909180 C / T
gnomAD v2:
16-88909180-C-T
gnomAD v3:
16-88842772-C-T
gnomAD v4:
16-88842772-C-T
PubMed:
PMID:12721840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88842772C>T , CM000678.2:g.88842772C>T | GRCh38 |
| NC_000016.9:g.88909180C>T , CM000678.1:g.88909180C>T | GRCh37 |
| NC_000016.8:g.87436681C>T | NCBI36 |
| NG_008667.1:g.19195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.178G>A MANE Select | ENSP00000268695.5:p.Asp60Asn | |
| ENST00000268695.9:c.178G>A | ENSP00000268695.5:p.Asp60Asn | |
| ENST00000562593.5:n.2853G>A | ||
| ENST00000562831.1:c.29-801G>A | ENSP00000455174.1:n.29-801G>A | |
| ENST00000565364.1:n.313G>A | ||
| ENST00000567525.5:c.70-801G>A | ENSP00000454484.1:n.70-801G>A | |
| ENST00000568613.5:c.297G>A | ENSP00000457921.1:n.297G>A | |
| NM_000512.4:c.178G>A | NP_000503.1:p.Asp60Asn | |
| XM_005256301.2:c.178G>A | XP_005256358.1:p.Asp60Asn | |
| XM_005256302.1:c.196G>A | XP_005256359.1:p.Asp66Asn | |
| XM_011522982.1:c.196G>A | XP_011521284.1:p.Asp66Asn | |
| XM_011522984.1:c.196G>A | XP_011521286.1:p.Asp66Asn | |
| NM_001323543.1:c.-311-801G>A | NP_001310472.1:n.-311-801G>A | |
| NM_001323544.1:c.196G>A | NP_001310473.1:p.Asp66Asn | |
| XM_005256301.3:c.178G>A | XP_005256358.1:p.Asp60Asn | |
| XM_011522982.2:c.196G>A | XP_011521284.1:p.Asp66Asn | |
| XM_017023111.2:c.196G>A | XP_016878600.1:p.Asp66Asn | |
| XM_017023112.2:c.196G>A | XP_016878601.1:p.Asp66Asn | |
| XM_017023113.1:c.-311-801G>A | XP_016878602.1:n.-311-801G>A | |
| NM_000512.5:c.178G>A MANE Select | NP_000503.1:p.Asp60Asn | |
| NM_001323543.2:c.-311-801G>A | NP_001310472.1:n.-311-801G>A | |
| NM_001323544.2:c.196G>A | NP_001310473.1:p.Asp66Asn |