Linked Data
ClinVar Variation Id:
681460
dbSNP Id:
rs749795206
ExAC:
19:41930492 A / G
gnomAD v2:
19-41930492-A-G
gnomAD v3:
19-41424587-A-G
gnomAD v4:
19-41424587-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424587A>G , CM000681.2:g.41424587A>G | GRCh38 |
| NC_000019.9:g.41930492A>G , CM000681.1:g.41930492A>G | GRCh37 |
| NC_000019.8:g.46622332A>G | NCBI36 |
| NG_013004.1:g.31799A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.1317A>G MANE Select | ENSP00000269980.2:p.Pro439= | |
| ENST00000269980.6:c.1317A>G | ENSP00000269980.2:p.Pro439= | |
| ENST00000457836.6:c.1326A>G | ENSP00000416000.2:p.Pro442= | |
| ENST00000540732.3:c.1419A>G | ENSP00000443246.1:p.Pro473= | |
| ENST00000544905.1:c.147A>G | ||
| ENST00000595085.5:c.922+1890A>G | ENSP00000471150.2:n.922+1890A>G | |
| NM_000709.3:c.1317A>G | NP_000700.1:p.Pro439= | |
| NM_001164783.1:c.1314A>G | NP_001158255.1:p.Pro438= | |
| NM_000709.4:c.1317A>G MANE Select | NP_000700.1:p.Pro439= | |
| NM_001164783.2:c.1314A>G | NP_001158255.1:p.Pro438= |