Linked Data
ClinVar Variation Id:
376149
ClinVar RCV Id:
RCV000435933
dbSNP Id:
rs1057519792
PubMed:
PMID:24124571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177095415C>A , CM000667.2:g.177095415C>A | GRCh38 |
| NC_000005.9:g.176522416C>A , CM000667.1:g.176522416C>A | GRCh37 |
| NC_000005.8:g.176455022C>A | NCBI36 |
| NG_012067.1:g.13496C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000292408.9:c.1605C>A MANE Select | ENSP00000292408.4:p.Asn535Lys | |
| ENST00000292408.8:c.1605C>A | ENSP00000292408.4:p.Asn535Lys | |
| ENST00000393637.5:c.1485C>A | ENSP00000377254.1:p.Asn495Lys | |
| ENST00000393648.6:c.1401C>A | ENSP00000377259.2:p.Asn467Lys | |
| ENST00000483872.2:n.591C>A | ||
| ENST00000502906.5:c.1605C>A | ENSP00000424960.1:p.Asn535Lys | |
| ENST00000511076.1:c.499C>A | ||
| NM_001291980.1:c.1401C>A | NP_001278909.1:p.Asn467Lys | |
| NM_002011.4:c.1605C>A | NP_002002.3:p.Asn535Lys | |
| NM_022963.3:c.1485C>A | NP_075252.2:p.Asn495Lys | |
| NM_213647.2:c.1605C>A | NP_998812.1:p.Asn535Lys | |
| XM_005265838.2:c.1605C>A | XP_005265895.1:p.Asn535Lys | |
| XM_011534464.1:c.1698C>A | XP_011532766.1:p.Asn566Lys | |
| XM_011534465.1:c.1287C>A | XP_011532767.1:p.Asn429Lys | |
| XR_941090.1:n.1600C>A | ||
| NM_001354984.1:c.1605C>A | NP_001341913.1:p.Asn535Lys | |
| NM_213647.3:c.1605C>A MANE Select | NP_998812.1:p.Asn535Lys | |
| NM_001291980.2:c.1401C>A | NP_001278909.1:p.Asn467Lys | |
| NM_001354984.2:c.1605C>A | NP_001341913.1:p.Asn535Lys | |
| NM_002011.5:c.1605C>A | NP_002002.3:p.Asn535Lys |