Linked Data
dbSNP Id:
rs148108450
ExAC:
18:50734146 G / A
gnomAD v2:
18-50734146-G-A
gnomAD v3:
18-53207776-G-A
gnomAD v4:
18-53207776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53207776G>A , CM000680.2:g.53207776G>A | GRCh38 |
| NC_000018.9:g.50734146G>A , CM000680.1:g.50734146G>A | GRCh37 |
| NC_000018.8:g.48988144G>A | NCBI36 |
| NG_013341.1:g.872605G>A | |
| NG_013341.2:g.872605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.1820G>A MANE Select | ENSP00000389140.2:p.Gly607Asp | |
| ENST00000304775.12:c.1621G>A | ||
| ENST00000412726.5:c.1751G>A | ENSP00000397322.2:p.Gly584Asp | |
| ENST00000442544.6:c.1820G>A | ENSP00000389140.2:p.Gly607Asp | |
| ENST00000581580.5:c.785G>A | ENSP00000464582.1:p.Gly262Asp | |
| NM_005215.3:c.1820G>A | NP_005206.2:p.Gly607Asp | |
| XM_011525843.1:c.1820G>A | XP_011524145.1:p.Gly607Asp | |
| XM_011525844.1:c.785G>A | XP_011524146.1:p.Gly262Asp | |
| XM_011525845.1:c.1820G>A | XP_011524147.1:p.Gly607Asp | |
| XM_011525846.1:c.1820G>A | XP_011524148.1:p.Gly607Asp | |
| XM_011525844.2:c.785G>A | XP_011524146.1:p.Gly262Asp | |
| XM_017025568.1:c.1820G>A | XP_016881057.1:p.Gly607Asp | |
| XM_017025569.1:c.1820G>A | XP_016881058.1:p.Gly607Asp | |
| XM_017025570.1:c.785G>A | XP_016881059.1:p.Gly262Asp | |
| NM_005215.4:c.1820G>A MANE Select | NP_005206.2:p.Gly607Asp |