Linked Data
dbSNP Id:
rs649224
ExAC:
18:48458662 G / A
gnomAD v2:
18-48458662-G-A
gnomAD v3:
18-50932292-G-A
gnomAD v4:
18-50932292-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.50932292G>A , CM000680.2:g.50932292G>A | GRCh38 |
| NC_000018.9:g.48458662G>A , CM000680.1:g.48458662G>A | GRCh37 |
| NC_000018.8:g.46712660G>A | NCBI36 |
| NG_016198.1:g.58231G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321341.11:c.1349G>A MANE Select | ENSP00000321070.5:p.Gly450Glu | |
| ENST00000585680.2:c.1039G>A | ENSP00000491793.1:n.1039G>A | |
| ENST00000589330.2:n.2329G>A | ||
| ENST00000638410.1:c.1349G>A | ENSP00000492272.1:p.Gly450Glu | |
| ENST00000638937.1:c.1349G>A | ENSP00000492393.1:p.Gly450Glu | |
| ENST00000639115.1:c.*871G>A | ENSP00000492733.1:n.*871G>A | |
| ENST00000639255.1:c.1187G>A | ENSP00000492085.1:p.Gly396Glu | |
| ENST00000639398.1:c.*709G>A | ENSP00000492309.1:n.*709G>A | |
| ENST00000639612.1:c.1107G>A | ||
| ENST00000639663.1:n.1733G>A | ||
| ENST00000639665.1:c.1238G>A | ENSP00000491520.1:p.Gly413Glu | |
| ENST00000639688.1:c.*871G>A | ENSP00000492377.1:n.*871G>A | |
| ENST00000639850.1:c.1235G>A | ENSP00000491152.1:p.Gly412Glu | |
| ENST00000640530.1:c.*709G>A | ENSP00000491724.1:n.*709G>A | |
| ENST00000640965.1:c.1238G>A | ENSP00000491954.1:p.Gly413Glu | |
| ENST00000640967.1:c.1349G>A | ENSP00000492067.1:p.Gly450Glu | |
| ENST00000321341.9:c.1349G>A | ENSP00000321070.5:p.Gly450Glu | |
| ENST00000382927.3:c.1349G>A | ENSP00000372384.2:p.Gly450Glu | |
| ENST00000585680.1:n.74G>A | ||
| NM_001168335.1:c.1349G>A | NP_001161807.1:p.Gly450Glu | |
| NM_002396.4:c.1349G>A | NP_002387.1:p.Gly450Glu | |
| XR_935223.1:n.2066G>A | ||
| XR_935223.2:n.1968G>A | ||
| NM_002396.5:c.1349G>A MANE Select | NP_002387.1:p.Gly450Glu | |
| NM_001168335.2:c.1349G>A | NP_001161807.1:p.Gly450Glu | |
| NR_174094.1:n.1552G>A |