Linked Data
dbSNP Id:
rs1403553441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665664C>A , CM000663.2:g.172665664C>A | GRCh38 |
| NC_000001.10:g.172634804C>A , CM000663.1:g.172634804C>A | GRCh37 |
| NC_000001.9:g.170901427C>A | NCBI36 |
| NG_007269.1:g.11620C>A , LRG_58:g.11620C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.494C>A MANE Select | ENSP00000356694.2:p.Thr165Asn | |
| ENST00000340030.4:c.*64C>A | ENSP00000344739.3:n.*64C>A | |
| ENST00000367721.2:c.494C>A | ENSP00000356694.2:p.Thr165Asn | |
| NM_000639.2:c.494C>A | NP_000630.1:p.Thr165Asn | |
| NM_001302746.1:c.*64C>A | NP_001289675.1:n.*64C>A | |
| NM_000639.3:c.494C>A MANE Select | NP_000630.1:p.Thr165Asn | |
| NM_001302746.2:c.*64C>A | NP_001289675.1:n.*64C>A |