Linked Data
dbSNP Id:
rs575279686
ExAC:
1:218610762 A / G
gnomAD v2:
1-218610762-A-G
gnomAD v3:
1-218437420-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218437420A>G , CM000663.2:g.218437420A>G | GRCh38 |
| NC_000001.10:g.218610762A>G , CM000663.1:g.218610762A>G | GRCh37 |
| NC_000001.9:g.216677385A>G | NCBI36 |
| NG_027721.1:g.97087A>G | |
| NG_027721.2:g.97087A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.1010A>G MANE Select | ENSP00000355897.4:p.Glu337Gly | |
| ENST00000366929.4:c.1094A>G | ENSP00000355896.4:p.Glu365Gly | |
| ENST00000366930.8:c.1010A>G | ENSP00000355897.4:p.Glu337Gly | |
| ENST00000479322.1:n.494A>G | ||
| NM_001135599.2:c.1094A>G | NP_001129071.1:p.Glu365Gly | |
| NM_003238.3:c.1010A>G | NP_003229.1:p.Glu337Gly | |
| NM_001135599.3:c.1094A>G | NP_001129071.1:p.Glu365Gly | |
| NM_003238.4:c.1010A>G | NP_003229.1:p.Glu337Gly | |
| NR_138148.1:n.2313A>G | ||
| NR_138149.1:n.2397A>G | ||
| NM_003238.5:c.1010A>G | NP_003229.1:p.Glu337Gly | |
| NM_003238.6:c.1010A>G MANE Select | NP_003229.1:p.Glu337Gly | |
| NM_001135599.4:c.1094A>G | NP_001129071.1:p.Glu365Gly | |
| NR_138148.2:n.2261A>G | ||
| NR_138149.2:n.2345A>G |