Linked Data
dbSNP Id:
rs1376763642
gnomAD v2:
19-39034004-C-T
gnomAD v4:
19-38543364-C-T
COSMIC:
COSM1612191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543364C>T , CM000681.2:g.38543364C>T | GRCh38 |
| NC_000019.9:g.39034004C>T , CM000681.1:g.39034004C>T | GRCh37 |
| NC_000019.8:g.43725844C>T | NCBI36 |
| NG_008866.1:g.114665C>T , LRG_766:g.114665C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.117C>T | ||
| ENST00000689936.1:c.99C>T | ||
| ENST00000359596.8:c.11707C>T MANE Select | ENSP00000352608.2:p.Arg3903Trp | |
| ENST00000355481.8:c.11692C>T | ENSP00000347667.3:p.Arg3898Trp | |
| ENST00000359596.7:c.11707C>T | ENSP00000352608.2:p.Arg3903Trp | |
| ENST00000360985.7:c.11689C>T | ENSP00000354254.4:p.Arg3897Trp | |
| ENST00000593322.1:c.316C>T | ||
| ENST00000594335.5:c.5076C>T | ||
| NM_000540.2:c.11707C>T , LRG_766t1:c.11707C>T | NP_000531.2:p.Arg3903Trp | |
| NM_001042723.1:c.11692C>T | NP_001036188.1:p.Arg3898Trp | |
| XM_006723317.1:c.11689C>T | XP_006723380.1:p.Arg3897Trp | |
| XM_006723319.1:c.11674C>T | XP_006723382.1:p.Arg3892Trp | |
| XM_011527204.1:c.11704C>T | XP_011525506.1:p.Arg3902Trp | |
| XM_011527205.1:c.11707C>T | XP_011525507.1:p.Arg3903Trp | |
| XM_006723317.2:c.11689C>T | XP_006723380.1:p.Arg3897Trp | |
| XM_006723319.2:c.11674C>T | XP_006723382.1:p.Arg3892Trp | |
| XM_011527205.2:c.11707C>T | XP_011525507.1:p.Arg3903Trp | |
| NM_000540.3:c.11707C>T MANE Select | NP_000531.2:p.Arg3903Trp | |
| NM_001042723.2:c.11692C>T | NP_001036188.1:p.Arg3898Trp |