Linked Data
ClinVar Variation Id:
37115
ClinVar RCV Id:
RCV000030757
dbSNP Id:
rs371195126
ExAC:
16:4833691 C / T
gnomAD v2:
16-4833691-C-T
gnomAD v3:
16-4783690-C-T
gnomAD v4:
16-4783690-C-T
PubMed:
PMID:22275165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4783690C>T , CM000678.2:g.4783690C>T | GRCh38 |
| NC_000016.9:g.4833691C>T , CM000678.1:g.4833691C>T | GRCh37 |
| NC_000016.8:g.4773692C>T | NCBI36 |
| NG_030315.1:g.9832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268231.13:c.589G>A MANE Select | ENSP00000268231.8:p.Asp197Asn | |
| ENST00000268231.12:c.589G>A | ENSP00000268231.7:p.Asp197Asn | |
| ENST00000396693.9:c.451G>A | ENSP00000379922.4:p.Asp151Asn | |
| ENST00000587603.5:c.589G>A | ENSP00000467237.1:p.Asp197Asn | |
| ENST00000588241.5:c.30+2117G>A | ||
| NM_001154458.2:c.451G>A | NP_001147930.1:p.Asp151Asn | |
| NM_144605.4:c.589G>A | NP_653206.2:p.Asp197Asn | |
| XM_006720846.2:c.589G>A | XP_006720909.1:p.Asp197Asn | |
| XM_011522379.1:c.397G>A | XP_011520681.1:p.Asp133Asn | |
| XM_011522379.3:c.397G>A | XP_011520681.1:p.Asp133Asn | |
| XM_017022938.1:c.607G>A | XP_016878427.1:p.Asp203Asn | |
| XM_024450155.1:c.589G>A | XP_024305923.1:p.Asp197Asn | |
| NM_001154458.3:c.451G>A | NP_001147930.1:p.Asp151Asn | |
| NM_144605.5:c.589G>A MANE Select | NP_653206.2:p.Asp197Asn |