Linked Data
ClinVar Variation Id:
540039
ClinVar RCV Id:
RCV000649961
dbSNP Id:
rs200823300
ExAC:
14:105181136 C / T
gnomAD v2:
14-105181136-C-T
gnomAD v3:
14-104714799-C-T
gnomAD v4:
14-104714799-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714799C>T , CM000676.2:g.104714799C>T | GRCh38 |
| NC_000014.8:g.105181136C>T , CM000676.1:g.105181136C>T | GRCh37 |
| NC_000014.7:g.104252181C>T | NCBI36 |
| NG_027684.1:g.30194C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3637C>T MANE Select | ENSP00000376410.4:p.Arg1213Trp | |
| ENST00000617571.5:c.3633C>T | ENSP00000483829.2:n.3633C>T | |
| ENST00000674520.1:c.3632C>T | ENSP00000502593.1:n.3632C>T | |
| ENST00000674631.1:c.1675C>T | ENSP00000502830.1:p.Arg559Trp | |
| ENST00000674662.1:c.3641C>T | ENSP00000501895.1:n.3641C>T | |
| ENST00000674757.1:c.3642C>T | ENSP00000502202.1:n.3642C>T | |
| ENST00000674822.1:c.3521C>T | ENSP00000501552.1:n.3521C>T | |
| ENST00000674846.1:c.3632C>T | ENSP00000502431.1:n.3632C>T | |
| ENST00000674857.1:c.3626C>T | ENSP00000501687.1:n.3626C>T | |
| ENST00000674960.1:c.3495C>T | ENSP00000501841.1:n.3495C>T | |
| ENST00000674991.1:c.2887C>T | ENSP00000502004.1:p.Arg963Trp | |
| ENST00000675207.1:c.3733C>T | ENSP00000502644.1:p.Arg1245Trp | |
| ENST00000675329.1:c.3613C>T | ENSP00000502287.1:p.Arg1205Trp | |
| ENST00000675481.1:c.3637C>T | ENSP00000502723.1:p.Arg1213Trp | |
| ENST00000675583.1:c.3566C>T | ENSP00000501740.1:n.3566C>T | |
| ENST00000675603.1:n.877C>T | ||
| ENST00000675638.1:c.3556C>T | ENSP00000501647.1:p.Arg1186Trp | |
| ENST00000675724.1:c.3575C>T | ENSP00000502576.1:n.3575C>T | |
| ENST00000675771.1:c.2900C>T | ENSP00000502104.1:n.2900C>T | |
| ENST00000675797.1:c.3042C>T | ENSP00000502023.1:n.3042C>T | |
| ENST00000675809.1:c.3692C>T | ENSP00000502587.1:n.3692C>T | |
| ENST00000675930.1:c.3525C>T | ENSP00000502456.1:n.3525C>T | |
| ENST00000675980.1:c.3655C>T | ENSP00000502520.1:p.Arg1219Trp | |
| ENST00000676016.1:c.3536C>T | ENSP00000502412.1:n.3536C>T | |
| ENST00000676366.1:c.3444C>T | ENSP00000501605.1:n.3444C>T | |
| ENST00000252527.8:c.2041C>T | ENSP00000252527.8:p.Arg681Trp | |
| ENST00000330634.11:c.3637C>T | ENSP00000376406.3:p.Arg1213Trp | |
| ENST00000392634.8:c.3637C>T | ENSP00000376410.4:p.Arg1213Trp | |
| ENST00000617571.4:c.-497C>T | ENSP00000483829.1:n.-497C>T | |
| NM_001031714.3:c.3637C>T | NP_001026884.3:p.Arg1213Trp | |
| NM_022489.3:c.3637C>T | NP_071934.3:p.Arg1213Trp | |
| XM_005268004.3:c.3733C>T | XP_005268061.1:p.Arg1245Trp | |
| XM_005268005.3:c.3733C>T | XP_005268062.1:p.Arg1245Trp | |
| XR_943507.1:n.3862C>T | ||
| XM_005268004.4:c.3733C>T | XP_005268061.1:p.Arg1245Trp | |
| XM_005268005.4:c.3733C>T | XP_005268062.1:p.Arg1245Trp | |
| XM_017021595.1:c.3733C>T | XP_016877084.1:p.Arg1245Trp | |
| NM_001031714.4:c.3637C>T | NP_001026884.3:p.Arg1213Trp | |
| NM_022489.4:c.3637C>T MANE Select | NP_071934.3:p.Arg1213Trp |