Linked Data
dbSNP Id:
rs5031017
ExAC:
19:41349750 C / A
gnomAD v2:
19-41349750-C-A
gnomAD v3:
19-40843845-C-A
gnomAD v4:
19-40843845-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40843845C>A , CM000681.2:g.40843845C>A | GRCh38 |
| NC_000019.9:g.41349750C>A , CM000681.1:g.41349750C>A | GRCh37 |
| NC_000019.8:g.46041590C>A | NCBI36 |
| NG_008377.1:g.11603G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.1436G>T MANE Select | ENSP00000301141.4:p.Gly479Val | |
| ENST00000301141.9:c.1436G>T | ENSP00000301141.4:p.Gly479Val | |
| ENST00000599960.1:n.355G>T | ||
| ENST00000601627.1:c.119+42430C>A | ||
| ENST00000610301.1:c.1436G>T | ENSP00000477899.1:p.Gly479Val | |
| NM_000762.5:c.1436G>T | NP_000753.3:p.Gly479Val | |
| NM_000762.6:c.1436G>T MANE Select | NP_000753.3:p.Gly479Val |