Linked Data
ClinVar Variation Id:
2738134
ClinVar RCV Id:
RCV003494796
gnomAD v4:
5-10255957-C-T
MyVariant Identifiers:
chr5:g.10256069C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10255957C>T , CM000667.2:g.10255957C>T | GRCh38 |
| NC_000005.9:g.10256069C>T , CM000667.1:g.10256069C>T | GRCh37 |
| NC_000005.8:g.10309069C>T | NCBI36 |
| NG_012160.1:g.10788C>T , LRG_361:g.10788C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.334C>T MANE Select | ENSP00000280326.4:p.Leu112= | |
| ENST00000280326.8:c.334C>T | ENSP00000280326.4:p.Leu112= | |
| ENST00000423695.6:n.128-2154C>T | ||
| ENST00000503026.5:c.271C>T | ENSP00000423318.1:p.Leu91= | |
| ENST00000503454.5:c.223C>T | ||
| ENST00000506600.1:c.55C>T | ENSP00000423052.1:p.Leu19= | |
| ENST00000511700.1:c.249C>T | ENSP00000423087.1:p.Ser83= | |
| ENST00000512975.5:c.106-2154C>T | ENSP00000425751.1:n.106-2154C>T | |
| ENST00000515390.5:c.169C>T | ENSP00000426923.1:p.Leu57= | |
| ENST00000515676.5:c.220C>T | ENSP00000427297.1:p.Leu74= | |
| ENST00000625723.1:c.106-2154C>T | ENSP00000487128.1:n.106-2154C>T | |
| NM_001306153.1:c.271C>T | NP_001293082.1:p.Leu91= | |
| NM_001306154.1:c.169C>T | NP_001293083.1:p.Leu57= | |
| NM_001306155.1:c.55C>T | NP_001293084.1:p.Leu19= | |
| NM_001306156.1:c.220C>T | NP_001293085.1:p.Leu74= | |
| NM_012073.3:c.334C>T , LRG_361t1:c.334C>T | NP_036205.1:p.Leu112= | |
| NM_012073.4:c.334C>T | NP_036205.1:p.Leu112= | |
| NM_012073.5:c.334C>T MANE Select | NP_036205.1:p.Leu112= | |
| NM_001306154.2:c.169C>T | NP_001293083.1:p.Leu57= | |
| NM_001306155.2:c.55C>T | NP_001293084.1:p.Leu19= | |
| NM_001306156.2:c.220C>T | NP_001293085.1:p.Leu74= |