Linked Data
dbSNP Id:
rs2083746888
gnomAD v4:
19-51746533-C-G
MyVariant Identifiers:
chr19:g.52249786C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51746533C>G , CM000681.2:g.51746533C>G | GRCh38 |
| NC_000019.9:g.52249786C>G , CM000681.1:g.52249786C>G | GRCh37 |
| NC_000019.8:g.56941598C>G | NCBI36 |
| NG_023426.1:g.10365G>C , LRG_146:g.10365G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594900.2:c.462G>C | ENSP00000470750.2:p.Leu154= | |
| ENST00000600815.2:c.462G>C | ENSP00000472936.2:p.Leu154= | |
| ENST00000304748.5:c.462G>C MANE Select | ENSP00000302707.3:p.Leu154= | |
| ENST00000304748.4:c.462G>C | ENSP00000302707.3:p.Leu154= | |
| ENST00000595042.5:c.462G>C | ENSP00000471493.1:p.Leu154= | |
| ENST00000600815.1:c.462G>C | ENSP00000472936.1:p.Leu154= | |
| NM_001193306.1:c.462G>C | NP_001180235.1:p.Leu154= | |
| NM_002029.3:c.462G>C , LRG_146t1:c.462G>C | NP_002020.1:p.Leu154= | |
| NM_001193306.2:c.462G>C | NP_001180235.1:p.Leu154= | |
| NM_002029.4:c.462G>C MANE Select | NP_002020.1:p.Leu154= |