Linked Data
ClinVar Variation Id:
330207
dbSNP Id:
rs200673226
ExAC:
19:55670467 G / A
gnomAD v2:
19-55670467-G-A
gnomAD v3:
19-55159099-G-A
gnomAD v4:
19-55159099-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55159099G>A , CM000681.2:g.55159099G>A | GRCh38 |
| NC_000019.9:g.55670467G>A , CM000681.1:g.55670467G>A | GRCh37 |
| NC_000019.8:g.60362279G>A | NCBI36 |
| NG_007866.2:g.3634C>T , LRG_432:g.3634C>T | |
| NG_032759.1:g.12624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.1589C>T MANE Select | ENSP00000432046.3:p.Pro530Leu | |
| ENST00000391720.8:c.1730C>T | ENSP00000375600.5:p.Pro577Leu | |
| ENST00000455045.5:c.1427C>T | ENSP00000394343.1:p.Pro476Leu | |
| ENST00000524407.6:c.1589C>T | ENSP00000432046.2:p.Pro530Leu | |
| ENST00000527223.6:c.1790C>T | ENSP00000436975.2:p.Pro597Leu | |
| ENST00000528412.5:c.*1377C>T | ENSP00000433826.2:n.*1377C>T | |
| ENST00000533527.6:n.1351C>T | ||
| ENST00000587789.2:n.674C>T | ||
| ENST00000587871.1:c.479+94C>T | ||
| ENST00000588076.1:c.588C>T | ||
| NM_001256714.1:c.1790C>T | NP_001243643.1:p.Pro597Leu | |
| NM_001256715.1:c.1589C>T | NP_001243644.1:p.Pro530Leu | |
| NM_001256716.1:c.1427C>T | NP_001243645.1:p.Pro476Leu | |
| NM_178837.4:c.1730C>T | NP_849159.2:p.Pro577Leu | |
| NM_001256715.2:c.1589C>T MANE Select | NP_001243644.1:p.Pro530Leu | |
| NM_001256716.2:c.1427C>T | NP_001243645.1:p.Pro476Leu |