Linked Data
ClinVar Variation Id:
161599
ClinVar RCV Id:
RCV000149135
dbSNP Id:
rs193921103
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.29599730C>T , CM000676.2:g.29599730C>T | GRCh38 |
| NC_000014.8:g.30068936C>T , CM000676.1:g.30068936C>T | GRCh37 |
| NC_000014.7:g.29138687C>T | NCBI36 |
| NG_052879.1:g.332964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616995.5:n.1764G>A | ||
| ENST00000691517.1:n.1277G>A | ||
| ENST00000331968.11:c.1993G>A MANE Select | ENSP00000333568.6:p.Asp665Asn | |
| ENST00000651571.1:c.1805G>A | ENSP00000498919.1:n.1805G>A | |
| ENST00000651616.1:c.1874G>A | ENSP00000498661.1:n.1874G>A | |
| ENST00000331968.9:c.1993G>A | ENSP00000333568.5:p.Asp665Asn | |
| ENST00000415220.6:c.2017G>A | ENSP00000390535.2:p.Asp673Asn | |
| ENST00000616995.4:c.1993G>A | ENSP00000482645.1:p.Asp665Asn | |
| NM_002742.2:c.1993G>A | NP_002733.2:p.Asp665Asn | |
| XM_005267859.1:c.2017G>A | XP_005267916.1:p.Asp673Asn | |
| XM_011536964.1:c.1789G>A | XP_011535266.1:p.Asp597Asn | |
| XM_011536965.1:c.1729G>A | XP_011535267.1:p.Asp577Asn | |
| XR_943493.1:n.2132G>A | ||
| NM_001330069.1:c.2017G>A | NP_001316998.1:p.Asp673Asn | |
| NM_001348390.1:c.1729G>A | NP_001335319.1:p.Asp577Asn | |
| XM_011536965.2:c.1729G>A | XP_011535267.1:p.Asp577Asn | |
| XM_017021462.1:c.1498G>A | XP_016876951.1:p.Asp500Asn | |
| XR_943493.2:n.2310G>A | ||
| NM_001330069.2:c.2017G>A | NP_001316998.1:p.Asp673Asn | |
| NM_002742.3:c.1993G>A MANE Select | NP_002733.2:p.Asp665Asn |