Linked Data
ClinVar Variation Id:
450308
ClinVar RCV Id:
RCV000522757
dbSNP Id:
rs141441189
ExAC:
6:15524687 C / A
gnomAD v2:
6-15524687-C-A
gnomAD v3:
6-15524456-C-A
gnomAD v4:
6-15524456-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15524456C>A , CM000668.2:g.15524456C>A | GRCh38 |
| NC_000006.11:g.15524687C>A , CM000668.1:g.15524687C>A | GRCh37 |
| NC_000006.10:g.15632666C>A | NCBI36 |
| NG_009309.1:g.143585G>T , LRG_588:g.143585G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.811+70G>T MANE Select | ENSP00000341680.6:n.811+70G>T | |
| ENST00000338950.9:c.881G>T | ENSP00000344718.5:p.Arg294Leu | |
| ENST00000344537.9:c.811+70G>T | ENSP00000341680.5:n.811+70G>T | |
| ENST00000355917.7:c.760+70G>T | ENSP00000348183.4:n.760+70G>T | |
| ENST00000462989.6:c.343+70G>T | ENSP00000427239.1:n.343+70G>T | |
| ENST00000506844.1:c.*879G>T | ENSP00000424202.1:n.*879G>T | |
| ENST00000509674.1:c.262+70G>T | ENSP00000421797.1:n.262+70G>T | |
| ENST00000510395.5:c.*721+70G>T | ENSP00000424685.1:n.*721+70G>T | |
| ENST00000513680.5:c.*811+70G>T | ENSP00000424357.1:n.*811+70G>T | |
| ENST00000514651.1:n.522G>T | ||
| ENST00000515875.5:c.*135+70G>T | ENSP00000425495.1:n.*135+70G>T | |
| ENST00000622898.4:c.706+70G>T | ENSP00000481997.1:n.706+70G>T | |
| NM_001271667.1:c.568+70G>T | NP_001258596.1:n.568+70G>T | |
| NM_001271668.1:c.760+70G>T | NP_001258597.1:n.760+70G>T | |
| NM_001271669.1:c.706+70G>T | NP_001258598.1:n.706+70G>T | |
| NM_032122.4:c.811+70G>T , LRG_588t1:c.811+70G>T | NP_115498.2:n.811+70G>T | |
| NM_183040.2:c.881G>T , LRG_588t2:c.881G>T | NP_898861.1:p.Arg294Leu | |
| NR_036448.1:n.1209G>T | ||
| XM_005249447.3:c.772+70G>T | XP_005249504.1:n.772+70G>T | |
| XM_011514936.1:c.721+70G>T | XP_011513238.1:n.721+70G>T | |
| XM_011514937.1:c.343+70G>T | XP_011513239.1:n.343+70G>T | |
| XM_005249447.4:c.772+70G>T | XP_005249504.1:n.772+70G>T | |
| XM_011514936.3:c.721+70G>T | XP_011513238.1:n.721+70G>T | |
| XM_011514937.2:c.343+70G>T | XP_011513239.1:n.343+70G>T | |
| XM_017011348.1:c.361+70G>T | XP_016866837.1:n.361+70G>T | |
| XM_017011349.1:c.358+70G>T | XP_016866838.1:n.358+70G>T | |
| XM_024446567.1:c.412+70G>T | XP_024302335.1:n.412+70G>T | |
| NM_032122.5:c.811+70G>T MANE Select | NP_115498.2:n.811+70G>T | |
| NR_036448.2:n.1179G>T | ||
| NM_001271667.2:c.568+70G>T | NP_001258596.1:n.568+70G>T | |
| NM_001271668.2:c.760+70G>T | NP_001258597.1:n.760+70G>T | |
| NM_001271669.2:c.706+70G>T | NP_001258598.1:n.706+70G>T | |
| NR_036448.3:n.1179G>T |