Linked Data
ClinVar Variation Id:
2847637
ClinVar RCV Id:
RCV003623175
dbSNP Id:
rs1702969660
gnomAD v3:
X-136659147-C-T
gnomAD v4:
X-136659147-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659147C>T , CM000685.2:g.136659147C>T | GRCh38 |
| NC_000023.10:g.135741306C>T , CM000685.1:g.135741306C>T | GRCh37 |
| NC_000023.9:g.135568972C>T | NCBI36 |
| NG_007280.1:g.15971C>T , LRG_141:g.15971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*136C>T | ENSP00000512122.1:n.*136C>T | |
| ENST00000695725.1:c.*73C>T | ENSP00000512123.1:n.*73C>T | |
| ENST00000695726.1:n.2486C>T | ||
| ENST00000695729.1:n.3321C>T | ||
| ENST00000370629.7:c.518C>T MANE Select | ENSP00000359663.2:p.Ala173Val | |
| ENST00000370628.2:c.455C>T | ENSP00000359662.2:p.Ala152Val | |
| ENST00000370629.6:c.518C>T | ENSP00000359663.2:p.Ala173Val | |
| NM_000074.2:c.518C>T , LRG_141t1:c.518C>T | NP_000065.1:p.Ala173Val | |
| NM_000074.3:c.518C>T MANE Select | NP_000065.1:p.Ala173Val |