Linked Data
dbSNP Id:
rs1439370230
gnomAD v2:
5-79361263-G-A
gnomAD v3:
5-80065440-G-A
gnomAD v4:
5-80065440-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80065440G>A , CM000667.2:g.80065440G>A | GRCh38 |
| NC_000005.9:g.79361263G>A , CM000667.1:g.79361263G>A | GRCh37 |
| NC_000005.8:g.79397019G>A | NCBI36 |
| NG_047084.1:g.79130G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350881.6:c.1157G>A MANE Select | ENSP00000339730.2:p.Gly386Glu | |
| ENST00000511733.1:c.884G>A | ENSP00000422298.1:p.Gly295Glu | |
| NM_001306212.1:c.884G>A | NP_001293141.1:p.Gly295Glu | |
| NM_001306213.1:c.884G>A | NP_001293142.1:p.Gly295Glu | |
| NM_001306214.1:c.884G>A | NP_001293143.1:p.Gly295Glu | |
| NM_003248.4:c.1157G>A | NP_003239.2:p.Gly386Glu | |
| NM_003248.5:c.1157G>A | NP_003239.2:p.Gly386Glu | |
| XM_017009798.2:c.1157G>A | XP_016865287.1:p.Gly386Glu | |
| XM_017009799.2:c.1157G>A | XP_016865288.1:p.Gly386Glu | |
| XR_002956176.1:n.1348G>A | ||
| NM_003248.6:c.1157G>A MANE Select | NP_003239.2:p.Gly386Glu | |
| NM_001306212.2:c.884G>A | NP_001293141.1:p.Gly295Glu | |
| NM_001306213.2:c.884G>A | NP_001293142.1:p.Gly295Glu | |
| NM_001306214.2:c.884G>A | NP_001293143.1:p.Gly295Glu |