Linked Data
ClinVar Variation Id:
453306
dbSNP Id:
rs781939614
ExAC:
1:145518175 C / T
gnomAD v2:
1-145518175-C-T
gnomAD v3:
1-145916914-G-A
gnomAD v4:
1-145916914-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145916914G>A , CM000663.2:g.145916914G>A | GRCh38 |
| NC_000001.10:g.145518175C>T , CM000663.1:g.145518175C>T | GRCh37 |
| NC_000001.9:g.144229532C>T | NCBI36 |
| NG_032654.2:g.15623C>T , LRG_574:g.15623C>T | |
| NG_033000.3:g.7011C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.277C>T MANE Select | ENSP00000358312.3:p.Arg93Ter | |
| ENST00000369306.7:c.277C>T | ENSP00000358312.3:p.Arg93Ter | |
| ENST00000537888.1:c.235C>T | ENSP00000437510.1:p.Arg79Ter | |
| NM_001184795.1:c.235C>T | NP_001171724.1:p.Arg79Ter | |
| NM_003846.2:c.277C>T | NP_003837.1:p.Arg93Ter | |
| NR_073491.1:n.509C>T | ||
| NR_073492.1:n.503C>T | ||
| NR_073493.2:n.725C>T | ||
| NM_003846.3:c.277C>T MANE Select | NP_003837.1:p.Arg93Ter | |
| NR_073491.2:n.302C>T | ||
| NR_073492.2:n.296C>T |