Linked Data
ClinVar Variation Id:
962160
ClinVar RCV Id:
RCV001235968
dbSNP Id:
rs758236594
ExAC:
5:126755843 G / A
gnomAD v2:
5-126755843-G-A
gnomAD v4:
5-127420151-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127420151G>A , CM000667.2:g.127420151G>A | GRCh38 |
| NC_000005.9:g.126755843G>A , CM000667.1:g.126755843G>A | GRCh37 |
| NC_000005.8:g.126783742G>A | NCBI36 |
| NG_032072.1:g.134388G>A | |
| NG_032072.2:g.134388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.1534G>A MANE Select | ENSP00000423354.2:p.Gly512Arg | |
| ENST00000274473.6:c.1534G>A | ENSP00000274473.6:p.Gly512Arg | |
| ENST00000418761.6:c.1534G>A | ENSP00000416284.2:p.Gly512Arg | |
| ENST00000503335.6:c.1534G>A | ENSP00000423354.2:p.Gly512Arg | |
| ENST00000508365.5:c.1534G>A | ENSP00000423195.1:p.Gly512Arg | |
| NM_001256545.1:c.1534G>A | NP_001243474.1:p.Gly512Arg | |
| NM_001308119.1:c.1534G>A | NP_001295048.1:p.Gly512Arg | |
| NM_001308121.1:c.1534G>A | NP_001295050.1:p.Gly512Arg | |
| NM_032446.2:c.1534G>A | NP_115822.1:p.Gly512Arg | |
| XM_011543692.1:c.1534G>A | XP_011541994.1:p.Gly512Arg | |
| XM_011543693.1:c.1534G>A | XP_011541995.1:p.Gly512Arg | |
| XM_011543694.1:c.1534G>A | XP_011541996.1:p.Gly512Arg | |
| XM_017009987.1:c.1699G>A | XP_016865476.1:p.Gly567Arg | |
| XM_017009988.1:c.394G>A | XP_016865477.1:p.Gly132Arg | |
| NM_001256545.2:c.1534G>A MANE Select | NP_001243474.1:p.Gly512Arg | |
| NM_032446.3:c.1534G>A | NP_115822.1:p.Gly512Arg | |
| NM_001308119.2:c.1534G>A | NP_001295048.1:p.Gly512Arg | |
| NM_001308121.2:c.1534G>A | NP_001295050.1:p.Gly512Arg |