Linked Data
ClinVar Variation Id:
2956534
ClinVar RCV Id:
RCV003816245
dbSNP Id:
rs1034688035
gnomAD v4:
14-91313539-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91313539G>C , CM000676.2:g.91313539G>C | GRCh38 |
| NC_000014.8:g.91779883G>C , CM000676.1:g.91779883G>C | GRCh37 |
| NC_000014.7:g.90849636G>C | NCBI36 |
| NG_033118.1:g.109306C>G | |
| NG_033118.2:g.109306C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.2277C>G MANE Select | ENSP00000374507.6:p.Leu759= | |
| ENST00000389857.10:c.2277C>G | ENSP00000374507.6:p.Leu759= | |
| NM_001080414.3:c.2277C>G | NP_001073883.2:p.Leu759= | |
| XM_005267691.3:c.2277C>G | XP_005267748.1:p.Leu759= | |
| XM_011536796.1:c.2169C>G | XP_011535098.1:p.Leu723= | |
| XR_429316.2:n.2405C>G | ||
| XR_943459.1:n.2405C>G | ||
| XM_005267691.5:c.2277C>G | XP_005267748.1:p.Leu759= | |
| XM_011536796.2:c.2169C>G | XP_011535098.1:p.Leu723= | |
| XM_017021335.2:c.2277C>G | XP_016876824.1:p.Leu759= | |
| XM_017021337.2:c.2277C>G | XP_016876826.1:p.Leu759= | |
| XR_429316.4:n.2403C>G | ||
| NM_001080414.4:c.2277C>G MANE Select | NP_001073883.2:p.Leu759= |