Linked Data
dbSNP Id:
rs61734417
ExAC:
1:202097559 G / A
gnomAD v2:
1-202097559-G-A
gnomAD v3:
1-202128431-G-A
gnomAD v4:
1-202128431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128431G>A , CM000663.2:g.202128431G>A | GRCh38 |
| NC_000001.10:g.202097559G>A , CM000663.1:g.202097559G>A | GRCh37 |
| NC_000001.9:g.200364182G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.902G>A | ||
| ENST00000682545.1:c.*327G>A | ENSP00000508402.1:n.*327G>A | |
| ENST00000682887.1:c.1722G>A | ENSP00000506946.1:n.1722G>A | |
| ENST00000683302.1:c.1252G>A | ENSP00000507885.1:p.Gly418Arg | |
| ENST00000683557.1:c.*153G>A | ENSP00000508029.1:n.*153G>A | |
| ENST00000367282.6:c.1321G>A MANE Select | ENSP00000356251.4:p.Gly441Arg | |
| ENST00000367282.5:c.1321G>A | ENSP00000356251.4:p.Gly441Arg | |
| NM_004767.3:c.1321G>A | NP_004758.3:p.Gly441Arg | |
| XM_011510158.1:c.760G>A | XP_011508460.1:p.Gly254Arg | |
| NM_004767.4:c.1321G>A | NP_004758.3:p.Gly441Arg | |
| XM_011510158.2:c.760G>A | XP_011508460.1:p.Gly254Arg | |
| NM_004767.5:c.1321G>A MANE Select | NP_004758.3:p.Gly441Arg |