Linked Data
dbSNP Id:
rs199473390
ExAC:
17:68172445 G / A
gnomAD v2:
17-68172445-G-A
gnomAD v3:
17-70176304-G-A
gnomAD v4:
17-70176304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70176304G>A , CM000679.2:g.70176304G>A | GRCh38 |
| NC_000017.10:g.68172445G>A , CM000679.1:g.68172445G>A | GRCh37 |
| NC_000017.9:g.65684040G>A | NCBI36 |
| NG_008798.1:g.11770G>A , LRG_328:g.11770G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243457.4:c.1265G>A MANE Select | ENSP00000243457.2:p.Arg422Gln | |
| ENST00000243457.3:c.1265G>A | ENSP00000243457.2:p.Arg422Gln | |
| ENST00000535240.1:c.1265G>A | ENSP00000441848.1:p.Arg422Gln | |
| NM_000891.2:c.1265G>A , LRG_328t1:c.1265G>A | NP_000882.1:p.Arg422Gln | |
| XM_011524779.1:c.1265G>A | XP_011523081.1:p.Arg422Gln | |
| NM_000891.3:c.1265G>A MANE Select | NP_000882.1:p.Arg422Gln |