Linked Data
ClinVar Variation Id:
3131509
ClinVar RCV Id:
RCV004418368
dbSNP Id:
rs931399409
gnomAD v2:
12-110777431-G-A
gnomAD v4:
12-110339626-G-A
MyVariant Identifiers:
chr12:g.110777431G>A (hg19)
chr12:g.110777431_110777432delinsAA (hg19)
chr12:g.110339626G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110339626G>A , CM000674.2:g.110339626G>A | GRCh38 |
| NC_000012.11:g.110777431G>A , CM000674.1:g.110777431G>A | GRCh37 |
| NC_000012.10:g.109261814G>A | NCBI36 |
| NG_007097.2:g.63000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539276.7:c.1666G>A MANE Select | ENSP00000440045.2:p.Asp556Asn | |
| ENST00000308664.10:c.1666G>A | ENSP00000311186.6:p.Asp556Asn | |
| ENST00000377685.9:c.*1506G>A | ENSP00000366913.4:n.*1506G>A | |
| ENST00000539276.6:c.1666G>A | ENSP00000440045.2:p.Asp556Asn | |
| ENST00000548169.2:c.1337G>A | ||
| NM_001681.3:c.1666G>A | NP_001672.1:p.Asp556Asn | |
| NM_170665.3:c.1666G>A | NP_733765.1:p.Asp556Asn | |
| XM_005253888.1:c.1666G>A | XP_005253945.1:p.Asp556Asn | |
| XM_011538402.1:c.1666G>A | XP_011536704.1:p.Asp556Asn | |
| XM_011538403.1:c.1666G>A | XP_011536705.1:p.Asp556Asn | |
| XR_243009.1:n.1672G>A | ||
| XM_005253888.3:c.1666G>A | XP_005253945.1:p.Asp556Asn | |
| XM_011538402.3:c.1666G>A | XP_011536704.1:p.Asp556Asn | |
| XR_002957329.1:n.1672G>A | ||
| XR_243009.3:n.1672G>A | ||
| NM_170665.4:c.1666G>A MANE Select | NP_733765.1:p.Asp556Asn | |
| NM_001681.4:c.1666G>A | NP_001672.1:p.Asp556Asn |