Linked Data
ClinVar Variation Id:
330208
ClinVar RCV Id:
RCV000383877
dbSNP Id:
rs201919395
ExAC:
19:55670642 C / T
gnomAD v2:
19-55670642-C-T
gnomAD v3:
19-55159274-C-T
gnomAD v4:
19-55159274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55159274C>T , CM000681.2:g.55159274C>T | GRCh38 |
| NC_000019.9:g.55670642C>T , CM000681.1:g.55670642C>T | GRCh37 |
| NC_000019.8:g.60362454C>T | NCBI36 |
| NG_007866.2:g.3459G>A , LRG_432:g.3459G>A | |
| NG_032759.1:g.12449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.1414G>A MANE Select | ENSP00000432046.3:p.Gly472Arg | |
| ENST00000391720.8:c.1555G>A | ENSP00000375600.5:p.Gly519Arg | |
| ENST00000455045.5:c.1252G>A | ENSP00000394343.1:p.Gly418Arg | |
| ENST00000524407.6:c.1414G>A | ENSP00000432046.2:p.Gly472Arg | |
| ENST00000527223.6:c.1615G>A | ENSP00000436975.2:p.Gly539Arg | |
| ENST00000528412.5:c.*1202G>A | ENSP00000433826.2:n.*1202G>A | |
| ENST00000533527.6:n.1176G>A | ||
| ENST00000587789.2:n.499G>A | ||
| ENST00000587871.1:c.398G>A | ||
| ENST00000588076.1:c.413G>A | ||
| NM_001256714.1:c.1615G>A | NP_001243643.1:p.Gly539Arg | |
| NM_001256715.1:c.1414G>A | NP_001243644.1:p.Gly472Arg | |
| NM_001256716.1:c.1252G>A | NP_001243645.1:p.Gly418Arg | |
| NM_178837.4:c.1555G>A | NP_849159.2:p.Gly519Arg | |
| NM_001256715.2:c.1414G>A MANE Select | NP_001243644.1:p.Gly472Arg | |
| NM_001256716.2:c.1252G>A | NP_001243645.1:p.Gly418Arg |