Linked Data
dbSNP Id:
rs2146049030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551631A>T , CM000681.2:g.43551631A>T | GRCh38 |
| NC_000019.9:g.44055783A>T , CM000681.1:g.44055783A>T | GRCh37 |
| NC_000019.8:g.48747623A>T | NCBI36 |
| NG_033799.1:g.28948T>A , LRG_784:g.28948T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1139T>A MANE Select | ENSP00000262887.5:p.Ile380Asn | |
| ENST00000262887.9:c.1139T>A | ENSP00000262887.4:p.Ile380Asn | |
| ENST00000543982.5:c.1046T>A | ENSP00000443671.1:p.Ile349Asn | |
| ENST00000597811.5:c.749T>A | ||
| NM_006297.2:c.1139T>A , LRG_784t1:c.1139T>A | NP_006288.2:p.Ile380Asn | |
| NM_006297.3:c.1139T>A MANE Select | NP_006288.2:p.Ile380Asn |