Linked Data
dbSNP Id:
rs1264457
ExAC:
6:30458064 G / A
gnomAD v2:
6-30458064-G-A
gnomAD v3:
6-30490287-G-A
gnomAD v4:
6-30490287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30490287G>A , CM000668.2:g.30490287G>A | GRCh38 |
| NC_000006.11:g.30458064G>A , CM000668.1:g.30458064G>A | GRCh37 |
| NC_000006.10:g.30566043G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376630.5:c.382G>A MANE Select | ENSP00000365817.4:p.Gly128Arg | |
| ENST00000376630.4:c.382G>A | ENSP00000365817.4:p.Gly128Arg | |
| ENST00000484194.1:n.648G>A | ||
| ENST00000493699.1:n.532G>A | ||
| NM_005516.5:c.382G>A | NP_005507.3:p.Gly128Arg | |
| XM_017010807.1:c.505G>A | XP_016866296.1:p.Gly169Arg | |
| XM_017010808.1:c.505G>A | XP_016866297.1:p.Gly169Arg | |
| XM_017010809.2:c.382G>A | XP_016866298.1:p.Gly128Arg | |
| NM_005516.6:c.382G>A MANE Select | NP_005507.3:p.Gly128Arg |