Linked Data
ClinVar Variation Id:
384117
ClinVar RCV Id:
RCV000437436
dbSNP Id:
rs1028250483
gnomAD v2:
1-156144970-C-T
gnomAD v3:
1-156175179-C-T
gnomAD v4:
1-156175179-C-T
COSMIC:
COSM5968864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156175179C>T , CM000663.2:g.156175179C>T | GRCh38 |
| NC_000001.10:g.156144970C>T , CM000663.1:g.156144970C>T | GRCh37 |
| NC_000001.9:g.154411594C>T | NCBI36 |
| NG_027683.1:g.30236C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368285.8:c.1528C>T MANE Select | ENSP00000357268.3:p.Arg510Trp | |
| ENST00000355014.6:c.1528C>T | ENSP00000347117.2:p.Arg510Trp | |
| ENST00000368282.1:c.1528C>T | ENSP00000357265.1:p.Arg510Trp | |
| ENST00000368284.5:c.1132C>T | ENSP00000357267.1:p.Arg378Trp | |
| ENST00000368285.7:c.1528C>T | ENSP00000357268.3:p.Arg510Trp | |
| ENST00000368286.6:c.1414C>T | ENSP00000357269.3:p.Arg472Trp | |
| ENST00000462892.1:n.837C>T | ||
| ENST00000487358.5:n.1425C>T | ||
| NM_001193300.1:c.1528C>T | NP_001180229.1:p.Arg510Trp | |
| NM_001193301.1:c.1528C>T | NP_001180230.1:p.Arg510Trp | |
| NM_001193302.1:c.1132C>T | NP_001180231.1:p.Arg378Trp | |
| NM_022367.3:c.1528C>T | NP_071762.2:p.Arg510Trp | |
| XM_011509871.1:c.1414C>T | XP_011508173.1:p.Arg472Trp | |
| XM_011509872.1:c.1528C>T | XP_011508174.1:p.Arg510Trp | |
| XM_011509873.1:c.1528C>T | XP_011508175.1:p.Arg510Trp | |
| XM_011509874.1:c.1231C>T | XP_011508176.1:p.Arg411Trp | |
| XM_011509875.1:c.1231C>T | XP_011508177.1:p.Arg411Trp | |
| XM_011509876.1:c.1231C>T | XP_011508178.1:p.Arg411Trp | |
| XM_011509877.1:c.1231C>T | XP_011508179.1:p.Arg411Trp | |
| XM_011509878.1:c.1231C>T | XP_011508180.1:p.Arg411Trp | |
| XM_011509879.1:c.1021C>T | XP_011508181.1:p.Arg341Trp | |
| XM_011509871.3:c.1414C>T | XP_011508173.1:p.Arg472Trp | |
| XM_011509872.2:c.1528C>T | XP_011508174.1:p.Arg510Trp | |
| XM_011509873.2:c.1528C>T | XP_011508175.1:p.Arg510Trp | |
| XM_011509874.2:c.1231C>T | XP_011508176.1:p.Arg411Trp | |
| XM_011509875.3:c.1231C>T | XP_011508177.1:p.Arg411Trp | |
| XM_011509876.2:c.1231C>T | XP_011508178.1:p.Arg411Trp | |
| XM_011509878.2:c.1231C>T | XP_011508180.1:p.Arg411Trp | |
| XM_011509879.2:c.1021C>T | XP_011508181.1:p.Arg341Trp | |
| XM_017002056.1:c.1528C>T | XP_016857545.1:p.Arg510Trp | |
| XM_017002057.1:c.1021C>T | XP_016857546.1:p.Arg341Trp | |
| NM_022367.4:c.1528C>T MANE Select | NP_071762.2:p.Arg510Trp | |
| NM_001193300.2:c.1528C>T | NP_001180229.1:p.Arg510Trp | |
| NM_001370567.1:c.1528C>T | NP_001357496.1:p.Arg510Trp | |
| NM_001370568.1:c.1231C>T | NP_001357497.1:p.Arg411Trp | |
| NM_001370569.1:c.1021C>T | NP_001357498.1:p.Arg341Trp | |
| NM_001370571.1:c.1021C>T | NP_001357500.1:p.Arg341Trp | |
| NM_001193301.2:c.1528C>T | NP_001180230.1:p.Arg510Trp | |
| NM_001193302.2:c.1132C>T | NP_001180231.1:p.Arg378Trp |