Linked Data
ClinVar Variation Id:
2193264
ClinVar RCV Id:
RCV002607899
dbSNP Id:
rs374947359
ExAC:
6:15524764 G / A
gnomAD v2:
6-15524764-G-A
gnomAD v3:
6-15524533-G-A
gnomAD v4:
6-15524533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15524533G>A , CM000668.2:g.15524533G>A | GRCh38 |
| NC_000006.11:g.15524764G>A , CM000668.1:g.15524764G>A | GRCh37 |
| NC_000006.10:g.15632743G>A | NCBI36 |
| NG_009309.1:g.143508C>T , LRG_588:g.143508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.804C>T MANE Select | ENSP00000341680.6:p.Pro268= | |
| ENST00000338950.9:c.804C>T | ENSP00000344718.5:p.Pro268= | |
| ENST00000344537.9:c.804C>T | ENSP00000341680.5:p.Pro268= | |
| ENST00000355917.7:c.753C>T | ENSP00000348183.4:p.Pro251= | |
| ENST00000462989.6:c.336C>T | ENSP00000427239.1:p.Pro112= | |
| ENST00000506844.1:c.*802C>T | ENSP00000424202.1:n.*802C>T | |
| ENST00000509674.1:c.255C>T | ENSP00000421797.1:p.Pro85= | |
| ENST00000510395.5:c.*714C>T | ENSP00000424685.1:n.*714C>T | |
| ENST00000513680.5:c.*804C>T | ENSP00000424357.1:n.*804C>T | |
| ENST00000514651.1:n.445C>T | ||
| ENST00000515875.5:c.*128C>T | ENSP00000425495.1:n.*128C>T | |
| ENST00000622898.4:c.699C>T | ENSP00000481997.1:p.Pro233= | |
| NM_001271667.1:c.561C>T | NP_001258596.1:p.Pro187= | |
| NM_001271668.1:c.753C>T | NP_001258597.1:p.Pro251= | |
| NM_001271669.1:c.699C>T | NP_001258598.1:p.Pro233= | |
| NM_032122.4:c.804C>T , LRG_588t1:c.804C>T | NP_115498.2:p.Pro268= | |
| NM_183040.2:c.804C>T , LRG_588t2:c.804C>T | NP_898861.1:p.Pro268= | |
| NR_036448.1:n.1132C>T | ||
| XM_005249447.3:c.765C>T | XP_005249504.1:p.Pro255= | |
| XM_011514936.1:c.714C>T | XP_011513238.1:p.Pro238= | |
| XM_011514937.1:c.336C>T | XP_011513239.1:p.Pro112= | |
| XM_005249447.4:c.765C>T | XP_005249504.1:p.Pro255= | |
| XM_011514936.3:c.714C>T | XP_011513238.1:p.Pro238= | |
| XM_011514937.2:c.336C>T | XP_011513239.1:p.Pro112= | |
| XM_017011348.1:c.354C>T | XP_016866837.1:p.Pro118= | |
| XM_017011349.1:c.351C>T | XP_016866838.1:p.Pro117= | |
| XM_024446567.1:c.405C>T | XP_024302335.1:p.Pro135= | |
| NM_032122.5:c.804C>T MANE Select | NP_115498.2:p.Pro268= | |
| NR_036448.2:n.1102C>T | ||
| NM_001271667.2:c.561C>T | NP_001258596.1:p.Pro187= | |
| NM_001271668.2:c.753C>T | NP_001258597.1:p.Pro251= | |
| NM_001271669.2:c.699C>T | NP_001258598.1:p.Pro233= | |
| NR_036448.3:n.1102C>T |