Linked Data
ClinVar Variation Id:
252940
ClinVar RCV Id:
RCV000508641
dbSNP Id:
rs1554995255
PubMed:
PMID:28194776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57602071T>A , CM000673.2:g.57602071T>A | GRCh38 |
| NC_000011.9:g.57369544T>A , CM000673.1:g.57369544T>A | GRCh37 |
| NC_000011.8:g.57126120T>A | NCBI36 |
| NG_009625.1:g.9518T>A , LRG_105:g.9518T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.587T>A MANE Select | ENSP00000278407.4:p.Ile196Asn | |
| ENST00000528996.2:c.58+3743T>A | ENSP00000431226.2:n.58+3743T>A | |
| ENST00000531605.2:c.88T>A | ENSP00000503752.1:p.Ser30Thr | |
| ENST00000619430.2:c.587T>A | ENSP00000478572.2:p.Ile196Asn | |
| ENST00000676670.1:c.587T>A | ENSP00000504807.1:p.Ile196Asn | |
| ENST00000676741.1:n.1669T>A | ||
| ENST00000677275.1:n.574T>A | ||
| ENST00000677624.1:c.587T>A | ENSP00000503979.1:p.Ile196Asn | |
| ENST00000677625.1:c.587T>A | ENSP00000502857.1:p.Ile196Asn | |
| ENST00000677856.1:n.646T>A | ||
| ENST00000677915.1:c.587T>A | ENSP00000503118.1:p.Ile196Asn | |
| ENST00000678533.1:c.88T>A | ENSP00000503873.1:p.Ser30Thr | |
| ENST00000678592.1:c.587T>A | ENSP00000504424.1:p.Ile196Asn | |
| ENST00000278407.8:c.587T>A | ENSP00000278407.4:p.Ile196Asn | |
| ENST00000340687.10:c.587T>A | ENSP00000341861.6:p.Ile196Asn | |
| ENST00000378323.8:c.602T>A | ENSP00000367574.4:p.Ile201Asn | |
| ENST00000378324.6:c.431T>A | ENSP00000367575.2:p.Ile144Asn | |
| ENST00000403558.1:c.689T>A | ENSP00000384420.1:p.Ile230Asn | |
| ENST00000531133.5:c.88T>A | ENSP00000435431.1:p.Ser30Thr | |
| ENST00000531605.1:n.27T>A | ||
| ENST00000531797.5:c.88T>A | ENSP00000432554.1:p.Ser30Thr | |
| ENST00000619430.1:c.348+1896T>A | ENSP00000478572.1:n.348+1896T>A | |
| NM_000062.2:c.587T>A , LRG_105t1:c.587T>A | NP_000053.2:p.Ile196Asn | |
| NM_001032295.1:c.587T>A | NP_001027466.1:p.Ile196Asn | |
| NM_000062.3:c.587T>A MANE Select | NP_000053.2:p.Ile196Asn | |
| NM_001032295.2:c.587T>A | NP_001027466.1:p.Ile196Asn |