Linked Data
ClinVar Variation Id:
265135
dbSNP Id:
rs121964927
ExAC:
13:113773030 G / T
gnomAD v2:
13-113773030-G-T
gnomAD v3:
13-113118716-G-T
gnomAD v4:
13-113118716-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118716G>T , CM000675.2:g.113118716G>T | GRCh38 |
| NC_000013.10:g.113773030G>T , CM000675.1:g.113773030G>T | GRCh37 |
| NC_000013.9:g.112821031G>T | NCBI36 |
| NG_009258.1:g.918G>T , LRG_548:g.918G>T | |
| NG_009262.1:g.17926G>T , LRG_554:g.17926G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1043G>T MANE Select | ENSP00000329546.4:p.Cys348Phe | |
| ENST00000346342.7:c.1043G>T | ENSP00000329546.3:p.Cys348Phe | |
| ENST00000375581.3:c.1109G>T | ENSP00000364731.3:p.Cys370Phe | |
| ENST00000541084.5:c.857G>T | ENSP00000442051.2:p.Cys286Phe | |
| NM_000131.4:c.1109G>T , LRG_554t1:c.1109G>T | NP_000122.1:p.Cys370Phe | |
| NM_001267554.1:c.857G>T | NP_001254483.1:p.Cys286Phe | |
| NM_019616.3:c.1043G>T , LRG_554t2:c.1043G>T | NP_062562.1:p.Cys348Phe | |
| NR_051961.1:n.1130G>T | ||
| XM_006719963.2:c.902G>T | XP_006720026.1:p.Cys301Phe | |
| XM_011537474.1:c.1151G>T | XP_011535776.1:p.Cys384Phe | |
| XM_011537475.1:c.965G>T | XP_011535777.1:p.Cys322Phe | |
| XM_011537476.1:c.803G>T | XP_011535778.1:p.Cys268Phe | |
| XM_011537477.1:c.1112G>T | XP_011535779.1:p.Cys371Phe | |
| XM_006719963.3:c.947G>T | XP_006720026.2:p.Cys316Phe | |
| XM_011537474.2:c.1196G>T | XP_011535776.2:p.Cys399Phe | |
| XM_011537475.2:c.1010G>T | XP_011535777.2:p.Cys337Phe | |
| XM_011537476.2:c.803G>T | XP_011535778.1:p.Cys268Phe | |
| NM_019616.4:c.1043G>T MANE Select | NP_062562.1:p.Cys348Phe | |
| NR_051961.2:n.1127G>T | ||
| NM_001267554.2:c.857G>T | NP_001254483.1:p.Cys286Phe |