Linked Data
ClinVar Variation Id:
397560
ClinVar RCV Id:
RCV000449579
dbSNP Id:
rs750240374
ExAC:
12:102159881 C / T
gnomAD v2:
12-102159881-C-T
gnomAD v3:
12-101766103-C-T
gnomAD v4:
12-101766103-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101766103C>T , CM000674.2:g.101766103C>T | GRCh38 |
| NC_000012.11:g.102159881C>T , CM000674.1:g.102159881C>T | GRCh37 |
| NC_000012.10:g.100684012C>T | NCBI36 |
| NG_021243.1:g.69765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1600G>A MANE Select | ENSP00000299314.7:p.Asp534Asn | |
| ENST00000299314.11:c.1600G>A | ENSP00000299314.7:p.Asp534Asn | |
| ENST00000552009.1:n.259G>A | ||
| NM_024312.4:c.1600G>A | NP_077288.2:p.Asp534Asn | |
| XM_006719593.2:c.1600G>A | XP_006719656.1:p.Asp534Asn | |
| XM_011538731.1:c.1519G>A | XP_011537033.1:p.Asp507Asn | |
| XM_006719593.3:c.1600G>A | XP_006719656.1:p.Asp534Asn | |
| XM_011538731.2:c.1519G>A | XP_011537033.1:p.Asp507Asn | |
| XM_017019961.1:c.1384G>A | XP_016875450.1:p.Asp462Asn | |
| XM_017019962.2:c.373G>A | XP_016875451.1:p.Asp125Asn | |
| NM_024312.5:c.1600G>A MANE Select | NP_077288.2:p.Asp534Asn |