Linked Data
ClinVar Variation Id:
2181552
ClinVar RCV Id:
RCV002595710
dbSNP Id:
rs1415761555
gnomAD v2:
6-15627643-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15627412C>T , CM000668.2:g.15627412C>T | GRCh38 |
| NC_000006.11:g.15627643C>T , CM000668.1:g.15627643C>T | GRCh37 |
| NC_000006.10:g.15735622C>T | NCBI36 |
| NG_009309.1:g.40629G>A , LRG_588:g.40629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.286G>A MANE Select | ENSP00000341680.6:p.Glu96Lys | |
| ENST00000338950.9:c.286G>A | ENSP00000344718.5:p.Glu96Lys | |
| ENST00000344537.9:c.286G>A | ENSP00000341680.5:p.Glu96Lys | |
| ENST00000355917.7:c.235G>A | ENSP00000348183.4:p.Glu79Lys | |
| ENST00000506844.1:c.*284G>A | ENSP00000424202.1:n.*284G>A | |
| ENST00000510395.5:c.*196G>A | ENSP00000424685.1:n.*196G>A | |
| ENST00000511762.2:c.181G>A | ENSP00000427473.2:p.Glu61Lys | |
| ENST00000513680.5:c.*284G>A | ENSP00000424357.1:n.*284G>A | |
| ENST00000515875.5:c.235G>A | ENSP00000425495.1:p.Glu79Lys | |
| ENST00000622898.4:c.181G>A | ENSP00000481997.1:p.Glu61Lys | |
| NM_001271667.1:c.43G>A | NP_001258596.1:p.Glu15Lys | |
| NM_001271668.1:c.235G>A | NP_001258597.1:p.Glu79Lys | |
| NM_001271669.1:c.181G>A | NP_001258598.1:p.Glu61Lys | |
| NM_032122.4:c.286G>A , LRG_588t1:c.286G>A | NP_115498.2:p.Glu96Lys | |
| NM_183040.2:c.286G>A , LRG_588t2:c.286G>A | NP_898861.1:p.Glu96Lys | |
| NR_036448.1:n.614G>A | ||
| XM_005249447.3:c.247G>A | XP_005249504.1:p.Glu83Lys | |
| XM_011514936.1:c.196G>A | XP_011513238.1:p.Glu66Lys | |
| XM_005249447.4:c.247G>A | XP_005249504.1:p.Glu83Lys | |
| XM_011514936.3:c.196G>A | XP_011513238.1:p.Glu66Lys | |
| NM_032122.5:c.286G>A MANE Select | NP_115498.2:p.Glu96Lys | |
| NR_036448.2:n.584G>A | ||
| NM_001271667.2:c.43G>A | NP_001258596.1:p.Glu15Lys | |
| NM_001271668.2:c.235G>A | NP_001258597.1:p.Glu79Lys | |
| NM_001271669.2:c.181G>A | NP_001258598.1:p.Glu61Lys | |
| NR_036448.3:n.584G>A |