Linked Data
dbSNP Id:
rs942947443
gnomAD v2:
17-40839812-A-G
gnomAD v3:
17-42687794-A-G
gnomAD v4:
17-42687794-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42687794A>G , CM000679.2:g.42687794A>G | GRCh38 |
| NC_000017.10:g.40839812A>G , CM000679.1:g.40839812A>G | GRCh37 |
| NC_000017.9:g.38093338A>G | NCBI36 |
| NG_042091.1:g.10181A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.1119A>G MANE Select | ENSP00000264638.3:p.Gln373= | |
| ENST00000264638.8:c.1119A>G | ENSP00000264638.3:p.Gln373= | |
| ENST00000586801.1:n.534A>G | ||
| ENST00000591662.1:c.1119A>G | ENSP00000466571.1:p.Gln373= | |
| NM_003632.2:c.1119A>G | NP_003623.1:p.Gln373= | |
| XM_005257748.3:c.891A>G | XP_005257805.1:p.Gln297= | |
| XM_005257748.4:c.891A>G | XP_005257805.1:p.Gln297= | |
| XM_017025238.1:c.1119A>G | XP_016880727.1:p.Gln373= | |
| XM_024451011.1:c.1119A>G | XP_024306779.1:p.Gln373= | |
| NM_003632.3:c.1119A>G MANE Select | NP_003623.1:p.Gln373= |