Linked Data
ClinVar Variation Id:
130183
dbSNP Id:
rs182595458
ExAC:
18:67727137 C / G
gnomAD v2:
18-67727137-C-G
gnomAD v3:
18-70059901-C-G
gnomAD v4:
18-70059901-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.70059901C>G , CM000680.2:g.70059901C>G | GRCh38 |
| NC_000018.9:g.67727137C>G , CM000680.1:g.67727137C>G | GRCh37 |
| NC_000018.8:g.65878117C>G | NCBI36 |
| NG_033104.1:g.150826G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255674.11:c.4889G>C | ENSP00000255674.7:p.Arg1630Thr | |
| ENST00000579986.6:c.976G>C | ENSP00000491518.1:n.976G>C | |
| ENST00000639128.1:n.2435G>C | ||
| ENST00000639487.1:c.43G>C | ||
| ENST00000640769.2:c.4889G>C MANE Select | ENSP00000491507.1:p.Arg1630Thr | |
| ENST00000677824.1:c.2288G>C | ENSP00000504646.1:p.Arg763Thr | |
| ENST00000679113.1:c.2241G>C | ENSP00000504487.1:n.2241G>C | |
| ENST00000255674.10:c.4889G>C | ENSP00000255674.6:p.Arg1630Thr | |
| ENST00000581161.5:c.*3203G>C | ENSP00000462926.1:n.*3203G>C | |
| ENST00000583043.5:c.4170G>C | ENSP00000462733.1:n.4170G>C | |
| NM_173630.3:c.4889G>C | NP_775901.3:p.Arg1630Thr | |
| XM_005266679.1:c.2153G>C | XP_005266736.1:p.Arg718Thr | |
| XM_006722434.2:c.4892G>C | XP_006722497.1:p.Arg1631Thr | |
| XM_006722435.2:c.4892G>C | XP_006722498.1:p.Arg1631Thr | |
| XM_011525902.1:c.4652G>C | XP_011524204.1:p.Arg1551Thr | |
| XM_011525903.1:c.4463G>C | XP_011524205.1:p.Arg1488Thr | |
| XM_011525904.1:c.4892G>C | XP_011524206.1:p.Arg1631Thr | |
| XM_011525905.1:c.4892G>C | XP_011524207.1:p.Arg1631Thr | |
| XM_011525906.1:c.3392G>C | XP_011524208.1:p.Arg1131Thr | |
| XR_430072.2:n.4930G>C | ||
| NM_001318520.1:c.2153G>C | NP_001305449.1:p.Arg718Thr | |
| XM_006722434.3:c.4892G>C | XP_006722497.1:p.Arg1631Thr | |
| XM_006722435.3:c.4892G>C | XP_006722498.1:p.Arg1631Thr | |
| XM_011525902.2:c.4652G>C | XP_011524204.1:p.Arg1551Thr | |
| XM_011525903.2:c.4463G>C | XP_011524205.1:p.Arg1488Thr | |
| XM_011525904.3:c.4892G>C | XP_011524206.1:p.Arg1631Thr | |
| XM_011525905.2:c.4892G>C | XP_011524207.1:p.Arg1631Thr | |
| XM_011525906.2:c.3392G>C | XP_011524208.1:p.Arg1131Thr | |
| XM_017025693.1:c.4649G>C | XP_016881182.1:p.Arg1550Thr | |
| XM_017025694.1:c.4250G>C | XP_016881183.1:p.Arg1417Thr | |
| XM_017025695.1:c.3827G>C | XP_016881184.1:p.Arg1276Thr | |
| XM_017025696.1:c.2783G>C | XP_016881185.1:p.Arg928Thr | |
| XM_024451139.1:c.4112G>C | XP_024306907.1:p.Arg1371Thr | |
| XM_024451140.1:c.4112G>C | XP_024306908.1:p.Arg1371Thr | |
| XR_430072.3:n.4960G>C | ||
| NM_001318520.2:c.2153G>C | NP_001305449.1:p.Arg718Thr | |
| NM_173630.4:c.4889G>C MANE Select | NP_775901.3:p.Arg1630Thr |