Linked Data
ClinVar Variation Id:
884767
ClinVar RCV Id:
RCV001116010
dbSNP Id:
rs2082529261
gnomAD v4:
16-31488965-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31488965A>C , CM000678.2:g.31488965A>C | GRCh38 |
| NC_000016.9:g.31500286A>C , CM000678.1:g.31500286A>C | GRCh37 |
| NC_000016.8:g.31407787A>C | NCBI36 |
| NG_012892.1:g.10848A>C | |
| NG_033149.1:g.24455T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330498.4:c.1366A>C MANE Select | ENSP00000327943.3:p.Ile456Leu | |
| ENST00000330498.3:c.1366A>C | ENSP00000327943.3:p.Ile456Leu | |
| ENST00000419665.6:c.1130-158A>C | ENSP00000410601.2:n.1130-158A>C | |
| ENST00000568188.1:n.737A>C | ||
| ENST00000568891.1:n.282-158A>C | ||
| NM_003041.3:c.1366A>C | NP_003032.1:p.Ile456Leu | |
| NR_130783.1:n.1149-158A>C | ||
| XM_006721072.2:c.1387A>C | XP_006721135.2:p.Ile463Leu | |
| XM_006721073.2:c.1302-158A>C | XP_006721136.2:n.1302-158A>C | |
| XM_006721072.4:c.1387A>C | XP_006721135.2:p.Ile463Leu | |
| XM_024450402.1:c.1151-158A>C | XP_024306170.1:n.1151-158A>C | |
| NM_003041.4:c.1366A>C MANE Select | NP_003032.1:p.Ile456Leu | |
| NR_130783.2:n.1144-158A>C |