Linked Data
dbSNP Id:
rs1283057698
gnomAD v2:
17-56350987-G-A
gnomAD v3:
17-58273626-G-A
gnomAD v4:
17-58273626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273626G>A , CM000679.2:g.58273626G>A | GRCh38 |
| NC_000017.10:g.56350987G>A , CM000679.1:g.56350987G>A | GRCh37 |
| NC_000017.9:g.53705986G>A | NCBI36 |
| NG_009629.1:g.12310C>T , LRG_84:g.12310C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.742C>T | ||
| ENST00000699291.1:c.534C>T | ENSP00000514272.1:p.Asn178= | |
| ENST00000699292.1:n.449C>T | ||
| ENST00000225275.4:c.1409C>T MANE Select | ENSP00000225275.3:p.Thr470Met | |
| ENST00000225275.3:c.1409C>T | ENSP00000225275.3:p.Thr470Met | |
| NM_000250.1:c.1409C>T , LRG_84t1:c.1409C>T | NP_000241.1:p.Thr470Met | |
| XM_011524821.1:c.1595C>T | XP_011523123.1:p.Thr532Met | |
| XM_011524822.1:c.1124C>T | XP_011523124.1:p.Thr375Met | |
| XM_011524823.1:c.1434C>T | XP_011523125.1:p.Asn478= | |
| NM_000250.2:c.1409C>T MANE Select | NP_000241.1:p.Thr470Met |