Linked Data
ClinVar Variation Id:
792928
ClinVar RCV Id:
RCV000976075
dbSNP Id:
rs1592930332
gnomAD v4:
12-115997219-A-G
MyVariant Identifiers:
chr12:g.116435024A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115997219A>G , CM000674.2:g.115997219A>G | GRCh38 |
| NC_000012.11:g.116435024A>G , CM000674.1:g.116435024A>G | GRCh37 |
| NC_000012.10:g.114919407A>G | NCBI36 |
| NG_023366.1:g.284968T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.2581T>C MANE Select | ENSP00000281928.3:p.Leu861= | |
| ENST00000548743.2:c.2551T>C | ENSP00000448553.2:p.Leu851= | |
| ENST00000549786.2:c.2009T>C | ||
| ENST00000647927.1:n.2954T>C | ||
| ENST00000648173.1:n.1376T>C | ||
| ENST00000648379.1:n.949T>C | ||
| ENST00000648737.1:n.2345T>C | ||
| ENST00000648916.1:n.592T>C | ||
| ENST00000649607.1:c.765T>C | ||
| ENST00000650226.1:c.2581T>C | ENSP00000496981.1:p.Leu861= | |
| ENST00000281928.7:c.2581T>C | ENSP00000281928.3:p.Leu861= | |
| NM_015335.4:c.2581T>C | NP_056150.1:p.Leu861= | |
| XM_011538080.1:c.2581T>C | XP_011536382.1:p.Leu861= | |
| XM_011538081.1:c.2578T>C | XP_011536383.1:p.Leu860= | |
| XM_011538082.1:c.2551T>C | XP_011536384.1:p.Leu851= | |
| XM_011538080.2:c.2581T>C | XP_011536382.1:p.Leu861= | |
| XM_011538081.2:c.2578T>C | XP_011536383.1:p.Leu860= | |
| XM_011538082.2:c.2551T>C | XP_011536384.1:p.Leu851= | |
| XM_017019090.1:c.2578T>C | XP_016874579.1:p.Leu860= | |
| NM_015335.5:c.2581T>C MANE Select | NP_056150.1:p.Leu861= |