Linked Data
ClinVar Variation Id:
2729628
ClinVar RCV Id:
RCV003596803
dbSNP Id:
rs190373580
ExAC:
19:52249896 G / C
gnomAD v2:
19-52249896-G-C
gnomAD v3:
19-51746643-G-C
gnomAD v4:
19-51746643-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51746643G>C , CM000681.2:g.51746643G>C | GRCh38 |
| NC_000019.9:g.52249896G>C , CM000681.1:g.52249896G>C | GRCh37 |
| NC_000019.8:g.56941708G>C | NCBI36 |
| NG_023426.1:g.10255C>G , LRG_146:g.10255C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594900.2:c.352C>G | ENSP00000470750.2:p.Leu118Val | |
| ENST00000600815.2:c.352C>G | ENSP00000472936.2:p.Leu118Val | |
| ENST00000304748.5:c.352C>G MANE Select | ENSP00000302707.3:p.Leu118Val | |
| ENST00000304748.4:c.352C>G | ENSP00000302707.3:p.Leu118Val | |
| ENST00000595042.5:c.352C>G | ENSP00000471493.1:p.Leu118Val | |
| ENST00000600815.1:c.352C>G | ENSP00000472936.1:p.Leu118Val | |
| NM_001193306.1:c.352C>G | NP_001180235.1:p.Leu118Val | |
| NM_002029.3:c.352C>G , LRG_146t1:c.352C>G | NP_002020.1:p.Leu118Val | |
| NM_001193306.2:c.352C>G | NP_001180235.1:p.Leu118Val | |
| NM_002029.4:c.352C>G MANE Select | NP_002020.1:p.Leu118Val |