Linked Data
dbSNP Id:
rs1366779292
gnomAD v2:
20-44576045-G-A
gnomAD v3:
20-45947406-G-A
gnomAD v4:
20-45947406-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947406G>A , CM000682.2:g.45947406G>A | GRCh38 |
| NC_000020.10:g.44576045G>A , CM000682.1:g.44576045G>A | GRCh37 |
| NC_000020.9:g.44009452G>A | NCBI36 |
| NG_029772.1:g.29789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.1851G>A MANE Select | ENSP00000361486.3:p.Glu617= | |
| ENST00000372409.7:c.1851G>A | ENSP00000361486.3:p.Glu617= | |
| ENST00000479348.2:c.707G>A | ||
| NM_022104.3:c.1851G>A | NP_071387.1:p.Glu617= | |
| XM_011528980.1:c.1851G>A | XP_011527282.1:p.Glu617= | |
| XM_011528981.1:c.1851G>A | XP_011527283.1:p.Glu617= | |
| XM_011528982.1:c.807G>A | XP_011527284.1:p.Glu269= | |
| XM_011528980.3:c.1851G>A | XP_011527282.1:p.Glu617= | |
| XM_011528981.3:c.1851G>A | XP_011527283.1:p.Glu617= | |
| XM_017028013.2:c.1851G>A | XP_016883502.1:p.Glu617= | |
| XM_017028014.2:c.807G>A | XP_016883503.1:p.Glu269= | |
| NM_022104.4:c.1851G>A MANE Select | NP_071387.1:p.Glu617= |