Linked Data
dbSNP Id:
rs1173644879
gnomAD v2:
18-67834227-T-C
gnomAD v3:
18-70166991-T-C
gnomAD v4:
18-70166991-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70166991T>C , CM000680.2:g.70166991T>C | GRCh38 |
| NC_000018.9:g.67834227T>C , CM000680.1:g.67834227T>C | GRCh37 |
| NC_000018.8:g.65985207T>C | NCBI36 |
| NG_033104.1:g.43736A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255674.11:c.1730A>G | ENSP00000255674.7:p.Gln577Arg | |
| ENST00000638251.1:c.1730A>G | ENSP00000491968.1:p.Gln577Arg | |
| ENST00000640376.1:c.1211A>G | ENSP00000491654.1:p.Gln404Arg | |
| ENST00000640769.2:c.1730A>G MANE Select | ENSP00000491507.1:p.Gln577Arg | |
| ENST00000255674.10:c.1730A>G | ENSP00000255674.6:p.Gln577Arg | |
| ENST00000581161.5:c.*133A>G | ENSP00000462926.1:n.*133A>G | |
| ENST00000581583.1:n.1798A>G | ||
| ENST00000583043.5:c.1100A>G | ENSP00000462733.1:p.Gln367Arg | |
| ENST00000584659.5:n.326A>G | ||
| NM_173630.3:c.1730A>G | NP_775901.3:p.Gln577Arg | |
| XM_005266679.1:c.-918A>G | XP_005266736.1:n.-918A>G | |
| XM_006722434.2:c.1730A>G | XP_006722497.1:p.Gln577Arg | |
| XM_006722435.2:c.1730A>G | XP_006722498.1:p.Gln577Arg | |
| XM_011525902.1:c.1730A>G | XP_011524204.1:p.Gln577Arg | |
| XM_011525903.1:c.1730A>G | XP_011524205.1:p.Gln577Arg | |
| XM_011525904.1:c.1730A>G | XP_011524206.1:p.Gln577Arg | |
| XM_011525905.1:c.1730A>G | XP_011524207.1:p.Gln577Arg | |
| XM_011525906.1:c.230A>G | XP_011524208.1:p.Gln77Arg | |
| XM_011525907.1:c.1730A>G | XP_011524209.1:p.Gln577Arg | |
| XM_011525908.1:c.1730A>G | XP_011524210.1:p.Gln577Arg | |
| XR_430072.2:n.1768A>G | ||
| XR_935213.1:n.1768A>G | ||
| NM_001318520.1:c.-918A>G | NP_001305449.1:n.-918A>G | |
| XM_006722434.3:c.1730A>G | XP_006722497.1:p.Gln577Arg | |
| XM_006722435.3:c.1730A>G | XP_006722498.1:p.Gln577Arg | |
| XM_011525902.2:c.1730A>G | XP_011524204.1:p.Gln577Arg | |
| XM_011525903.2:c.1730A>G | XP_011524205.1:p.Gln577Arg | |
| XM_011525904.3:c.1730A>G | XP_011524206.1:p.Gln577Arg | |
| XM_011525905.2:c.1730A>G | XP_011524207.1:p.Gln577Arg | |
| XM_011525906.2:c.230A>G | XP_011524208.1:p.Gln77Arg | |
| XM_011525907.2:c.1730A>G | XP_011524209.1:p.Gln577Arg | |
| XM_011525908.3:c.1730A>G | XP_011524210.1:p.Gln577Arg | |
| XM_017025693.1:c.1730A>G | XP_016881182.1:p.Gln577Arg | |
| XM_017025694.1:c.1088A>G | XP_016881183.1:p.Gln363Arg | |
| XM_017025695.1:c.665A>G | XP_016881184.1:p.Gln222Arg | |
| XM_017025696.1:c.-442A>G | XP_016881185.1:n.-442A>G | |
| XM_024451139.1:c.950A>G | XP_024306907.1:p.Gln317Arg | |
| XM_024451140.1:c.950A>G | XP_024306908.1:p.Gln317Arg | |
| XR_430072.3:n.1798A>G | ||
| XR_935213.2:n.1798A>G | ||
| NM_001318520.2:c.-918A>G | NP_001305449.1:n.-918A>G | |
| NM_173630.4:c.1730A>G MANE Select | NP_775901.3:p.Gln577Arg |