Linked Data
ClinVar Variation Id:
188674
dbSNP Id:
rs777782551
ExAC:
19:55665508 C / G
gnomAD v2:
19-55665508-C-G
gnomAD v4:
19-55154140-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154140C>G , CM000681.2:g.55154140C>G | GRCh38 |
| NC_000019.9:g.55665508C>G , CM000681.1:g.55665508C>G | GRCh37 |
| NC_000019.8:g.60357320C>G | NCBI36 |
| NG_007866.2:g.8593G>C , LRG_432:g.8593G>C | |
| NG_011829.2:g.99G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.439G>C MANE Select | ENSP00000341838.5:p.Val147Leu | |
| ENST00000665070.1:c.472G>C | ENSP00000499482.1:p.Val158Leu | |
| ENST00000344887.9:c.439G>C | ENSP00000341838.5:p.Val147Leu | |
| ENST00000585806.5:n.438G>C | ||
| ENST00000586669.5:n.447G>C | ||
| ENST00000588882.1:c.364G>C | ENSP00000466729.1:p.Val122Leu | |
| ENST00000589864.1:n.267G>C | ||
| NM_000363.4:c.439G>C , LRG_432t1:c.439G>C | NP_000354.4:p.Val147Leu | |
| NM_000363.5:c.439G>C MANE Select | NP_000354.4:p.Val147Leu |