Linked Data
ClinVar Variation Id:
1162076
ClinVar RCV Id:
RCV001506848
dbSNP Id:
rs2137144593
MyVariant Identifiers:
chr12:g.102179899C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786121C>T , CM000674.2:g.101786121C>T | GRCh38 |
| NC_000012.11:g.102179899C>T , CM000674.1:g.102179899C>T | GRCh37 |
| NC_000012.10:g.100704030C>T | NCBI36 |
| NG_021243.1:g.49747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.462G>A MANE Select | ENSP00000299314.7:p.Leu154= | |
| ENST00000299314.11:c.462G>A | ENSP00000299314.7:p.Leu154= | |
| ENST00000549940.5:c.462G>A | ENSP00000449150.1:p.Leu154= | |
| ENST00000550352.1:n.256G>A | ||
| ENST00000552681.1:c.96G>A | ENSP00000449217.1:p.Leu32= | |
| NM_024312.4:c.462G>A | NP_077288.2:p.Leu154= | |
| XM_006719593.2:c.462G>A | XP_006719656.1:p.Leu154= | |
| XM_011538731.1:c.381G>A | XP_011537033.1:p.Leu127= | |
| XM_006719593.3:c.462G>A | XP_006719656.1:p.Leu154= | |
| XM_011538731.2:c.381G>A | XP_011537033.1:p.Leu127= | |
| XM_017019961.1:c.246G>A | XP_016875450.1:p.Leu82= | |
| XM_017019962.2:c.-889G>A | XP_016875451.1:n.-889G>A | |
| NM_024312.5:c.462G>A MANE Select | NP_077288.2:p.Leu154= |