Linked Data
ClinVar Variation Id:
97031
ClinVar RCV Id:
RCV000083277
dbSNP Id:
rs587777085
PubMed:
PMID:24140113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27477310A>T , CM000664.2:g.27477310A>T | GRCh38 |
| NC_000002.11:g.27700177A>T , CM000664.1:g.27700177A>T | GRCh37 |
| NC_000002.10:g.27553681A>T | NCBI36 |
| NG_034068.1:g.17502T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260570.8:c.1232T>A MANE Select | ENSP00000260570.3:p.Ile411Asn | |
| ENST00000476264.7:n.1521T>A | ||
| ENST00000674701.1:c.1232T>A | ENSP00000502275.1:p.Ile411Asn | |
| ENST00000674824.1:c.1169T>A | ENSP00000501824.1:p.Ile390Asn | |
| ENST00000674932.1:c.*895T>A | ENSP00000501967.1:n.*895T>A | |
| ENST00000675410.1:c.551T>A | ENSP00000502030.1:p.Ile184Asn | |
| ENST00000675618.1:n.1312T>A | ||
| ENST00000675690.1:c.1232T>A | ENSP00000502283.1:p.Ile411Asn | |
| ENST00000675728.1:c.1169T>A | ENSP00000501700.1:p.Ile390Asn | |
| ENST00000675729.1:c.1232T>A | ENSP00000502319.1:p.Ile411Asn | |
| ENST00000675963.1:c.*930T>A | ENSP00000502708.1:n.*930T>A | |
| ENST00000676119.1:c.*522T>A | ENSP00000501701.1:n.*522T>A | |
| ENST00000676300.1:n.1556T>A | ||
| ENST00000260570.7:c.1232T>A | ENSP00000260570.3:p.Ile411Asn | |
| ENST00000359466.10:c.1232T>A | ENSP00000352443.6:p.Ile411Asn | |
| ENST00000416524.2:c.1169T>A | ENSP00000407408.2:p.Ile390Asn | |
| ENST00000476264.6:n.1178T>A | ||
| ENST00000507184.5:n.1364T>A | ||
| ENST00000511842.5:n.1257T>A | ||
| NM_015662.2:c.1232T>A | NP_056477.1:p.Ile411Asn | |
| XM_005264254.1:c.1232T>A | XP_005264311.1:p.Ile411Asn | |
| XM_006711986.2:c.1169T>A | XP_006712049.1:p.Ile390Asn | |
| XM_006711987.1:c.1232T>A | XP_006712050.1:p.Ile411Asn | |
| XM_011532757.1:c.551T>A | XP_011531059.1:p.Ile184Asn | |
| XM_011532758.1:c.1232T>A | XP_011531060.1:p.Ile411Asn | |
| XM_006711986.3:c.1169T>A | XP_006712049.1:p.Ile390Asn | |
| XM_011532757.2:c.551T>A | XP_011531059.1:p.Ile184Asn | |
| XM_017003790.1:c.1169T>A | XP_016859279.1:p.Ile390Asn | |
| XM_017003791.1:c.551T>A | XP_016859280.1:p.Ile184Asn | |
| XM_017003792.1:c.1232T>A | XP_016859281.1:p.Ile411Asn | |
| XM_017003793.1:c.-219T>A | XP_016859282.1:n.-219T>A | |
| XM_017003794.1:c.-219T>A | XP_016859283.1:n.-219T>A | |
| XM_017003795.1:c.-591T>A | XP_016859284.1:n.-591T>A | |
| XR_001738698.1:n.1287T>A | ||
| NM_015662.3:c.1232T>A MANE Select | NP_056477.1:p.Ile411Asn |