Linked Data
ClinVar Variation Id:
497671
dbSNP Id:
rs200992827
ExAC:
14:77786796 C / T
gnomAD v2:
14-77786796-C-T
gnomAD v3:
14-77320453-C-T
gnomAD v4:
14-77320453-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77320453C>T , CM000676.2:g.77320453C>T | GRCh38 |
| NC_000014.8:g.77786796C>T , CM000676.1:g.77786796C>T | GRCh37 |
| NC_000014.7:g.76856549C>T | NCBI36 |
| NG_008897.1:g.5430G>A , LRG_844:g.5430G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.229G>A | ENSP00000451967.2:p.Asp77Asn | |
| ENST00000682247.1:c.229G>A | ENSP00000507213.1:p.Asp77Asn | |
| ENST00000682382.1:c.177G>A | ||
| ENST00000682467.1:c.229G>A | ENSP00000508062.1:p.Asp77Asn | |
| ENST00000682795.1:c.229G>A | ENSP00000507574.1:p.Asp77Asn | |
| ENST00000683188.1:c.24G>A | ||
| ENST00000683828.1:c.98G>A | ||
| ENST00000684344.1:c.229G>A | ENSP00000507432.1:p.Asp77Asn | |
| ENST00000684534.1:n.252G>A | ||
| ENST00000261534.9:c.229G>A MANE Select | ENSP00000261534.4:p.Asp77Asn | |
| ENST00000261534.8:c.229G>A | ENSP00000261534.4:p.Asp77Asn | |
| ENST00000452340.7:n.252G>A | ||
| ENST00000556326.5:c.229G>A | ENSP00000450630.1:p.Asp77Asn | |
| NM_013382.5:c.229G>A , LRG_844t1:c.229G>A | NP_037514.2:p.Asp77Asn | |
| XM_011536675.1:c.229G>A | XP_011534977.1:p.Asp77Asn | |
| XM_011536676.1:c.-20G>A | XP_011534978.1:n.-20G>A | |
| XM_011536677.1:c.229G>A | XP_011534979.1:p.Asp77Asn | |
| XM_011536678.1:c.229G>A | XP_011534980.1:p.Asp77Asn | |
| XM_011536680.1:c.229G>A | XP_011534982.1:p.Asp77Asn | |
| XR_943416.1:n.432G>A | ||
| XM_011536675.2:c.229G>A | XP_011534977.1:p.Asp77Asn | |
| XM_011536676.2:c.-20G>A | XP_011534978.1:n.-20G>A | |
| XM_011536677.3:c.229G>A | XP_011534979.1:p.Asp77Asn | |
| XR_001750279.1:n.429G>A | ||
| XR_001750282.1:n.433G>A | ||
| XR_943416.3:n.430G>A | ||
| NM_013382.6:c.229G>A | NP_037514.2:p.Asp77Asn | |
| NM_013382.7:c.229G>A MANE Select | NP_037514.2:p.Asp77Asn |