Linked Data
ClinVar Variation Id:
200824
dbSNP Id:
rs120074186
ExAC:
11:2594209 G / T
gnomAD v2:
11-2594209-G-T
gnomAD v4:
11-2572979-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572979G>T , CM000673.2:g.2572979G>T | GRCh38 |
| NC_000011.9:g.2594209G>T , CM000673.1:g.2594209G>T | GRCh37 |
| NC_000011.8:g.2550785G>T | NCBI36 |
| NG_008935.1:g.132989G>T , LRG_287:g.132989G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.653G>T | ENSP00000434560.2:p.Trp218Leu | |
| ENST00000646564.2:c.478-10456G>T | ENSP00000495806.2:n.478-10456G>T | |
| ENST00000155840.12:c.914G>T MANE Select | ENSP00000155840.2:p.Trp305Leu | |
| ENST00000335475.6:c.533G>T | ENSP00000334497.5:p.Trp178Leu | |
| ENST00000646564.1:c.124-10456G>T | ENSP00000495806.1:n.124-10456G>T | |
| ENST00000155840.9:c.914G>T | ENSP00000155840.2:p.Trp305Leu | |
| ENST00000335475.5:c.533G>T | ENSP00000334497.5:p.Trp178Leu | |
| NM_000218.2:c.914G>T , LRG_287t1:c.914G>T | NP_000209.2:p.Trp305Leu | |
| NM_181798.1:c.533G>T , LRG_287t2:c.533G>T | NP_861463.1:p.Trp178Leu | |
| NM_000218.3:c.914G>T MANE Select | NP_000209.2:p.Trp305Leu |