Linked Data
dbSNP Id:
rs1454836583
gnomAD v2:
2-85890503-T-C
gnomAD v3:
2-85663380-T-C
gnomAD v4:
2-85663380-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85663380T>C , CM000664.2:g.85663380T>C | GRCh38 |
| NC_000002.11:g.85890503T>C , CM000664.1:g.85890503T>C | GRCh37 |
| NC_000002.10:g.85744014T>C | NCBI36 |
| NG_016967.1:g.10362A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.968A>G | ENSP00000386346.2:p.Gln323Arg | |
| ENST00000519937.7:c.968A>G MANE Select | ENSP00000428719.2:p.Gln323Arg | |
| ENST00000393822.7:c.968A>G | ENSP00000377409.4:p.Gln323Arg | |
| ENST00000409383.5:c.1004A>G | ENSP00000386346.1:p.Gln335Arg | |
| ENST00000428225.5:c.945A>G | ||
| ENST00000491167.1:n.168A>G | ||
| ENST00000494165.1:c.99A>G | ||
| ENST00000519937.6:c.968A>G | ENSP00000428719.2:p.Gln323Arg | |
| NM_000542.3:c.1004A>G | NP_000533.3:p.Gln335Arg | |
| NM_198843.2:c.1004A>G | NP_942140.2:p.Gln335Arg | |
| XM_005264487.2:c.1004A>G | XP_005264544.1:p.Gln335Arg | |
| XM_005264488.2:c.956A>G | XP_005264545.2:p.Gln319Arg | |
| XM_005264490.3:c.968A>G | XP_005264547.2:p.Gln323Arg | |
| XM_005264488.4:c.956A>G | XP_005264545.2:p.Gln319Arg | |
| XM_005264490.4:c.968A>G | XP_005264547.2:p.Gln323Arg | |
| NM_000542.4:c.968A>G | NP_000533.4:p.Gln323Arg | |
| NM_001367281.1:c.968A>G | NP_001354210.1:p.Gln323Arg | |
| NM_198843.3:c.968A>G | NP_942140.3:p.Gln323Arg | |
| NM_000542.5:c.968A>G MANE Select | NP_000533.4:p.Gln323Arg |