Linked Data
ClinVar Variation Id:
36195
ClinVar RCV Id:
RCV000029858
dbSNP Id:
rs193922278
PubMed:
PMID:17204055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145227A>T , CM000669.2:g.44145227A>T | GRCh38 |
| NC_000007.13:g.44184826A>T , CM000669.1:g.44184826A>T | GRCh37 |
| NC_000007.12:g.44151351A>T | NCBI36 |
| NG_008847.1:g.49197T>A | |
| NG_008847.2:g.57944T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*1305T>A | ENSP00000379142.4:n.*1305T>A | |
| ENST00000616242.5:c.*427T>A | ENSP00000482149.2:n.*427T>A | |
| ENST00000683378.1:n.533T>A | ||
| ENST00000336642.9:c.341T>A | ENSP00000338009.5:p.Ile114Asn | |
| ENST00000345378.7:c.1310T>A | ENSP00000223366.2:p.Ile437Asn | |
| ENST00000403799.8:c.1307T>A MANE Select | ENSP00000384247.3:p.Ile436Asn | |
| ENST00000671824.1:c.1370T>A | ENSP00000500264.1:p.Ile457Asn | |
| ENST00000672743.1:n.319T>A | ||
| ENST00000673284.1:c.1307T>A | ENSP00000499852.1:p.Ile436Asn | |
| ENST00000336642.8:c.359T>A | ENSP00000338009.4:p.Ile120Asn | |
| ENST00000345378.6:c.1310T>A | ENSP00000223366.2:p.Ile437Asn | |
| ENST00000395796.7:c.1304T>A | ENSP00000379142.3:p.Ile435Asn | |
| ENST00000403799.7:c.1307T>A | ENSP00000384247.3:p.Ile436Asn | |
| ENST00000437084.1:c.1256T>A | ENSP00000402840.1:p.Ile419Asn | |
| ENST00000459642.1:n.687T>A | ||
| ENST00000616242.4:c.1304T>A | ENSP00000482149.1:p.Ile435Asn | |
| NM_000162.3:c.1307T>A | NP_000153.1:p.Ile436Asn | |
| NM_033507.1:c.1310T>A | NP_277042.1:p.Ile437Asn | |
| NM_033508.1:c.1304T>A | NP_277043.1:p.Ile435Asn | |
| NM_000162.4:c.1307T>A | NP_000153.1:p.Ile436Asn | |
| NM_001354800.1:c.1307T>A | NP_001341729.1:p.Ile436Asn | |
| NM_001354801.1:c.296T>A | NP_001341730.1:p.Ile99Asn | |
| NM_001354802.1:c.167T>A | NP_001341731.1:p.Ile56Asn | |
| NM_001354803.1:c.341T>A | NP_001341732.1:p.Ile114Asn | |
| NM_033507.2:c.1310T>A | NP_277042.1:p.Ile437Asn | |
| NM_033508.2:c.1304T>A | NP_277043.1:p.Ile435Asn | |
| XM_024446707.1:c.167T>A | XP_024302475.1:p.Ile56Asn | |
| NM_000162.5:c.1307T>A MANE Select | NP_000153.1:p.Ile436Asn | |
| NM_033507.3:c.1310T>A | NP_277042.1:p.Ile437Asn | |
| NM_033508.3:c.1304T>A | NP_277043.1:p.Ile435Asn | |
| NM_001354803.2:c.341T>A | NP_001341732.1:p.Ile114Asn |