Linked Data
ClinVar Variation Id:
1418402
ClinVar RCV Id:
RCV001952103
dbSNP Id:
rs76460090
gnomAD v4:
1-201065852-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201065852C>G , CM000663.2:g.201065852C>G | GRCh38 |
| NC_000001.10:g.201034980C>G , CM000663.1:g.201034980C>G | GRCh37 |
| NC_000001.9:g.199301603C>G | NCBI36 |
| NG_009816.1:g.51715G>C | |
| NG_009816.2:g.51715G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.2839G>C MANE Select | ENSP00000355192.3:p.Val947Leu | |
| ENST00000679417.1:c.*2002G>C | ENSP00000506706.1:n.*2002G>C | |
| ENST00000680059.1:c.*357G>C | ENSP00000504944.1:n.*357G>C | |
| ENST00000681078.1:c.2839G>C | ENSP00000506645.1:p.Val947Leu | |
| ENST00000681190.1:c.2839G>C | ENSP00000506428.1:p.Val947Leu | |
| ENST00000681874.1:c.2779G>C | ENSP00000505162.1:p.Val927Leu | |
| ENST00000362061.3:c.2839G>C | ENSP00000355192.3:p.Val947Leu | |
| ENST00000367338.7:c.2839G>C | ENSP00000356307.3:p.Val947Leu | |
| NM_000069.2:c.2839G>C | NP_000060.2:p.Val947Leu | |
| XM_005245478.2:c.2839G>C | XP_005245535.1:p.Val947Leu | |
| XM_005245478.3:c.2839G>C | XP_005245535.1:p.Val947Leu | |
| NM_000069.3:c.2839G>C MANE Select | NP_000060.2:p.Val947Leu |