Linked Data
ClinVar Variation Id:
402257
ClinVar RCV Id:
RCV000454318
dbSNP Id:
rs1060499796
gnomAD v4:
5-90644869-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90644869G>A , CM000667.2:g.90644869G>A | GRCh38 |
| NC_000005.9:g.89940686G>A , CM000667.1:g.89940686G>A | GRCh37 |
| NC_000005.8:g.89976442G>A | NCBI36 |
| NG_007083.1:g.91070G>A | |
| NG_007083.2:g.120526G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.2898G>A MANE Select | ENSP00000384582.2:p.Glu966= | |
| ENST00000504142.2:n.1664G>A | ||
| ENST00000639676.1:n.496G>A | ||
| ENST00000640403.1:c.201G>A | ENSP00000492531.1:p.Glu67= | |
| ENST00000405460.6:c.2898G>A | ENSP00000384582.2:p.Glu966= | |
| ENST00000504142.1:c.1663G>A | ||
| NM_032119.3:c.2898G>A | NP_115495.3:p.Glu966= | |
| NR_003149.1:n.2994G>A | ||
| XM_011543675.1:c.2898G>A | XP_011541977.1:p.Glu966= | |
| XM_011543676.1:c.2898G>A | XP_011541978.1:p.Glu966= | |
| XM_011543677.1:c.201G>A | XP_011541979.1:p.Glu67= | |
| XM_011543678.1:c.2898G>A | XP_011541980.1:p.Glu966= | |
| XM_011543679.1:c.2898G>A | XP_011541981.1:p.Glu966= | |
| NM_032119.4:c.2898G>A MANE Select | NP_115495.3:p.Glu966= | |
| XM_017009963.2:c.2898G>A | XP_016865452.1:p.Glu966= | |
| XM_017009964.2:c.2898G>A | XP_016865453.1:p.Glu966= | |
| XM_017009965.1:c.2895G>A | XP_016865454.1:p.Glu965= | |
| XM_017009966.2:c.2898G>A | XP_016865455.1:p.Glu966= | |
| XM_017009967.1:c.2802G>A | XP_016865456.1:p.Glu934= | |
| XM_017009968.2:c.2898G>A | XP_016865457.1:p.Glu966= | |
| XM_017009969.2:c.2898G>A | XP_016865458.1:p.Glu966= | |
| XM_017009970.2:c.2898G>A | XP_016865459.1:p.Glu966= | |
| XM_017009971.2:c.2898G>A | XP_016865460.1:p.Glu966= | |
| XM_017009974.2:c.2898G>A | XP_016865463.1:p.Glu966= | |
| NR_003149.2:n.2997G>A |