Linked Data
ClinVar Variation Id:
330071
ClinVar RCV Id:
RCV000379051
dbSNP Id:
rs868833808
gnomAD v4:
19-53906763-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53906763G>C , CM000681.2:g.53906763G>C | GRCh38 |
| NC_000019.9:g.54410017G>C , CM000681.1:g.54410017G>C | GRCh37 |
| NC_000019.8:g.59101829G>C | NCBI36 |
| NG_009114.1:g.29551G>C , LRG_669:g.29551G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1962G>C | ENSP00000507230.1:p.Leu654= | |
| ENST00000682676.1:n.1363G>C | ||
| ENST00000683513.1:c.1854G>C | ENSP00000506809.1:p.Leu618= | |
| ENST00000263431.4:c.1962G>C MANE Select | ENSP00000263431.3:p.Leu654= | |
| ENST00000263431.3:c.1962G>C | ENSP00000263431.3:p.Leu654= | |
| NM_001316329.1:c.1962G>C | NP_001303258.1:p.Leu654= | |
| NM_002739.3:c.1962G>C , LRG_669t1:c.1962G>C | NP_002730.1:p.Leu654= | |
| NM_002739.4:c.1962G>C | NP_002730.1:p.Leu654= | |
| XM_011527108.1:c.1053G>C | XP_011525410.1:p.Leu351= | |
| NM_002739.5:c.1962G>C MANE Select | NP_002730.1:p.Leu654= | |
| NM_001316329.2:c.1962G>C | NP_001303258.1:p.Leu654= |