Linked Data
ClinVar Variation Id:
376744
ClinVar RCV Id:
RCV000418761
dbSNP Id:
rs1057520041
PubMed:
PMID:12552571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220438T>A , CM000681.2:g.1220438T>A | GRCh38 |
| NC_000019.9:g.1220437T>A , CM000681.1:g.1220437T>A | GRCh37 |
| NC_000019.8:g.1171437T>A | NCBI36 |
| NG_007460.2:g.36032T>A , LRG_319:g.36032T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.530T>A | ENSP00000490268.2:p.Ile177Asn | |
| ENST00000585748.3:c.158T>A | ENSP00000477641.2:p.Ile53Asn | |
| ENST00000585851.2:c.356T>A | ENSP00000467912.2:p.Ile119Asn | |
| ENST00000326873.12:c.530T>A MANE Select | ENSP00000324856.6:p.Ile177Asn | |
| ENST00000652231.1:c.530T>A | ENSP00000498804.1:p.Ile177Asn | |
| ENST00000326873.11:c.530T>A | ENSP00000324856.6:p.Ile177Asn | |
| ENST00000585851.1:c.356T>A | ENSP00000467912.1:p.Ile119Asn | |
| ENST00000586243.5:c.530T>A | ENSP00000467240.2:p.Ile177Asn | |
| ENST00000586358.5:n.353T>A | ||
| ENST00000589152.5:n.620T>A | ||
| ENST00000591133.2:n.426T>A | ||
| NM_000455.4:c.530T>A , LRG_319t1:c.530T>A | NP_000446.1:p.Ile177Asn | |
| XM_005259617.1:c.530T>A | XP_005259674.1:p.Ile177Asn | |
| XM_005259618.3:c.530T>A | XP_005259675.1:p.Ile177Asn | |
| XM_011528209.1:c.308T>A | XP_011526511.1:p.Ile103Asn | |
| XR_936204.1:n.1155T>A | ||
| XM_005259617.3:c.530T>A | XP_005259674.1:p.Ile177Asn | |
| XM_011528209.2:c.308T>A | XP_011526511.1:p.Ile103Asn | |
| XR_001753738.2:n.1155T>A | ||
| XR_001753739.1:n.1155T>A | ||
| XR_001753740.2:n.1155T>A | ||
| NM_000455.5:c.530T>A MANE Select | NP_000446.1:p.Ile177Asn |