Linked Data
ClinVar Variation Id:
2519572
ClinVar RCV Id:
RCV003270257
dbSNP Id:
rs375833448
ExAC:
18:31318786 T / G
gnomAD v2:
18-31318786-T-G
gnomAD v3:
18-33738822-T-G
gnomAD v4:
18-33738822-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.33738822T>G , CM000680.2:g.33738822T>G | GRCh38 |
| NC_000018.9:g.31318786T>G , CM000680.1:g.31318786T>G | GRCh37 |
| NC_000018.8:g.29572784T>G | NCBI36 |
| NG_055244.1:g.165246T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696964.1:c.1421T>G | ENSP00000513003.1:p.Ile474Arg | |
| ENST00000269197.12:c.1418T>G MANE Select | ENSP00000269197.4:p.Ile473Arg | |
| ENST00000592288.6:c.*542T>G | ENSP00000465053.1:n.*542T>G | |
| ENST00000592541.6:c.*1077T>G | ENSP00000466655.2:n.*1077T>G | |
| ENST00000593195.6:c.1630T>G | ENSP00000466073.1:n.1630T>G | |
| ENST00000642541.1:c.1250T>G | ENSP00000493665.1:p.Ile417Arg | |
| ENST00000681521.1:c.1298T>G | ENSP00000506037.1:p.Ile433Arg | |
| ENST00000269197.9:c.1418T>G | ENSP00000269197.4:p.Ile473Arg | |
| ENST00000592288.5:c.*542T>G | ENSP00000465053.1:n.*542T>G | |
| NM_030632.1:c.1418T>G | NP_085135.1:p.Ile473Arg | |
| XM_005258356.1:c.1421T>G | XP_005258413.1:p.Ile474Arg | |
| XM_011526205.1:c.1394T>G | XP_011524507.1:p.Ile465Arg | |
| XM_011526206.1:c.1340T>G | XP_011524508.1:p.Ile447Arg | |
| XM_011526207.1:c.1340T>G | XP_011524509.1:p.Ile447Arg | |
| XM_011526208.1:c.1301T>G | XP_011524510.1:p.Ile434Arg | |
| XM_011526209.1:c.1250T>G | XP_011524511.1:p.Ile417Arg | |
| XM_011526210.1:c.1250T>G | XP_011524512.1:p.Ile417Arg | |
| XM_011526211.1:c.1250T>G | XP_011524513.1:p.Ile417Arg | |
| XM_011526212.1:c.1250T>G | XP_011524514.1:p.Ile417Arg | |
| XM_011526213.1:c.1250T>G | XP_011524515.1:p.Ile417Arg | |
| XM_011526214.1:c.1250T>G | XP_011524516.1:p.Ile417Arg | |
| NM_030632.2:c.1418T>G | NP_085135.1:p.Ile473Arg | |
| XM_011526205.2:c.1394T>G | XP_011524507.1:p.Ile465Arg | |
| XM_011526206.2:c.1340T>G | XP_011524508.1:p.Ile447Arg | |
| XM_011526213.2:c.1250T>G | XP_011524515.1:p.Ile417Arg | |
| XM_017026012.1:c.1340T>G | XP_016881501.1:p.Ile447Arg | |
| XM_017026013.1:c.1250T>G | XP_016881502.1:p.Ile417Arg | |
| XM_017026014.2:c.1250T>G | XP_016881503.1:p.Ile417Arg | |
| XM_024451269.1:c.1250T>G | XP_024307037.1:p.Ile417Arg | |
| NM_030632.3:c.1418T>G MANE Select | NP_085135.1:p.Ile473Arg |