Linked Data
ClinVar Variation Id:
512250
ClinVar RCV Id:
RCV001718968
dbSNP Id:
rs188800315
ExAC:
6:24825637 C / T
gnomAD v2:
6-24825637-C-T
gnomAD v3:
6-24825409-C-T
gnomAD v4:
6-24825409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24825409C>T , CM000668.2:g.24825409C>T | GRCh38 |
| NC_000006.11:g.24825637C>T , CM000668.1:g.24825637C>T | GRCh37 |
| NC_000006.10:g.24933616C>T | NCBI36 |
| NG_051606.1:g.221880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259698.9:c.2748G>A | ENSP00000259698.4:p.Leu916= | |
| ENST00000538035.6:c.2598G>A | ENSP00000441138.2:p.Leu866= | |
| ENST00000643898.2:c.2685G>A MANE Select | ENSP00000494268.2:p.Leu895= | |
| ENST00000259698.8:c.2748G>A | ENSP00000259698.4:p.Leu916= | |
| ENST00000538035.5:c.2685G>A | ENSP00000441138.1:p.Leu895= | |
| ENST00000613507.4:c.2748G>A | ENSP00000482957.1:p.Leu916= | |
| NM_001286445.1:c.2685G>A | NP_001273374.1:p.Leu895= | |
| NM_014722.3:c.2748G>A | NP_055537.2:p.Leu916= | |
| XM_006715275.2:c.2700G>A | XP_006715338.1:p.Leu900= | |
| XM_006715277.1:c.2598G>A | XP_006715340.1:p.Leu866= | |
| XM_006715278.2:c.2598G>A | XP_006715341.1:p.Leu866= | |
| XM_006715279.1:c.2598G>A | XP_006715342.1:p.Leu866= | |
| XM_011515007.1:c.2685G>A | XP_011513309.1:p.Leu895= | |
| XM_011515008.1:c.2598G>A | XP_011513310.1:p.Leu866= | |
| XM_011515009.1:c.2598G>A | XP_011513311.1:p.Leu866= | |
| XM_011515010.1:c.2598G>A | XP_011513312.1:p.Leu866= | |
| XM_011515012.1:c.2850G>A | XP_011513314.1:p.Leu950= | |
| NM_001286445.2:c.2685G>A | NP_001273374.1:p.Leu895= | |
| NM_001346031.1:c.2598G>A | NP_001332960.1:p.Leu866= | |
| NM_001346032.1:c.2598G>A | NP_001332961.1:p.Leu866= | |
| NM_014722.4:c.2748G>A | NP_055537.2:p.Leu916= | |
| XM_006715279.2:c.2598G>A | XP_006715342.1:p.Leu866= | |
| XM_011515008.2:c.2598G>A | XP_011513310.1:p.Leu866= | |
| XM_017011523.1:c.2598G>A | XP_016867012.1:p.Leu866= | |
| XR_001743760.1:n.2874G>A | ||
| NM_001286445.3:c.2685G>A MANE Select | NP_001273374.1:p.Leu895= | |
| NM_001346031.2:c.2598G>A | NP_001332960.1:p.Leu866= | |
| NM_001346032.2:c.2598G>A | NP_001332961.1:p.Leu866= | |
| NM_014722.5:c.2748G>A | NP_055537.2:p.Leu916= |