Linked Data
ClinVar Variation Id:
8248
ClinVar RCV Id:
RCV000008732
dbSNP Id:
rs121909286
PubMed:
PMID:11170071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916180T>A , CM000674.2:g.51916180T>A | GRCh38 |
| NC_000012.11:g.52309964T>A , CM000674.1:g.52309964T>A | GRCh37 |
| NC_000012.10:g.50596231T>A | NCBI36 |
| NG_009549.1:g.13763T>A , LRG_543:g.13763T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.923T>A | ENSP00000446724.2:p.Ile308Asn | |
| ENST00000551576.6:c.1193T>A | ENSP00000455848.2:p.Ile398Asn | |
| ENST00000552678.2:c.1193T>A | ENSP00000457394.2:p.Ile398Asn | |
| ENST00000388922.9:c.1193T>A MANE Select | ENSP00000373574.4:p.Ile398Asn | |
| ENST00000388922.8:c.1193T>A | ENSP00000373574.4:p.Ile398Asn | |
| ENST00000419526.6:c.671T>A | ENSP00000392492.2:p.Ile224Asn | |
| ENST00000547632.1:n.468T>A | ||
| ENST00000550683.5:c.1235T>A | ENSP00000447884.1:p.Ile412Asn | |
| ENST00000552678.1:c.198T>A | ||
| NM_000020.2:c.1193T>A , LRG_543t1:c.1193T>A | NP_000011.2:p.Ile398Asn | |
| NM_001077401.1:c.1193T>A | NP_001070869.1:p.Ile398Asn | |
| XM_005269235.2:c.1193T>A | XP_005269292.1:p.Ile398Asn | |
| XM_011539008.1:c.923T>A | XP_011537310.1:p.Ile308Asn | |
| XM_024449279.1:c.404T>A | XP_024305047.1:p.Ile135Asn | |
| NM_000020.3:c.1193T>A MANE Select | NP_000011.2:p.Ile398Asn | |
| NM_001077401.2:c.1193T>A | NP_001070869.1:p.Ile398Asn |