Linked Data
ClinVar Variation Id:
1002721
ClinVar RCV Id:
RCV001299187
dbSNP Id:
rs745709929
ExAC:
16:30100356 C / T
gnomAD v2:
16-30100356-C-T
gnomAD v3:
16-30089035-C-T
gnomAD v4:
16-30089035-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30089035C>T , CM000678.2:g.30089035C>T | GRCh38 |
| NC_000016.9:g.30100356C>T , CM000678.1:g.30100356C>T | GRCh37 |
| NC_000016.8:g.30007857C>T | NCBI36 |
| NG_023283.1:g.7850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395224.7:c.529G>A MANE Select | ENSP00000378650.2:p.Asp177Asn | |
| ENST00000279386.6:c.529G>A | ENSP00000279386.2:p.Asp177Asn | |
| ENST00000395224.6:c.529G>A | ENSP00000378650.2:p.Asp177Asn | |
| ENST00000553607.1:c.529G>A | ENSP00000461223.1:p.Asp177Asn | |
| ENST00000567664.5:c.529G>A | ENSP00000460425.1:p.Asp177Asn | |
| ENST00000627355.2:c.529G>A | ENSP00000485762.1:p.Asp177Asn | |
| NM_004608.3:c.529G>A | NP_004599.2:p.Asp177Asn | |
| XM_005255523.1:c.529G>A | XP_005255580.1:p.Asp177Asn | |
| XM_011545926.1:c.529G>A | XP_011544228.1:p.Asp177Asn | |
| XR_950840.1:n.1273G>A | ||
| XM_005255523.2:c.529G>A | XP_005255580.1:p.Asp177Asn | |
| XM_011545926.3:c.529G>A | XP_011544228.1:p.Asp177Asn | |
| XM_017023614.1:c.529G>A | XP_016879103.1:p.Asp177Asn | |
| XR_950840.3:n.1263G>A | ||
| NM_004608.4:c.529G>A MANE Select | NP_004599.2:p.Asp177Asn |