Linked Data
ClinVar Variation Id:
2735724
ClinVar RCV Id:
RCV003557653
dbSNP Id:
rs61754363
ExAC:
11:88911767 T / C
gnomAD v2:
11-88911767-T-C
gnomAD v4:
11-89178599-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178599T>C , CM000673.2:g.89178599T>C | GRCh38 |
| NC_000011.9:g.88911767T>C , CM000673.1:g.88911767T>C | GRCh37 |
| NC_000011.8:g.88551415T>C | NCBI36 |
| NG_008748.1:g.5728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.646T>C MANE Select | ENSP00000263321.4:p.Leu216= | |
| ENST00000263321.5:c.646T>C | ENSP00000263321.4:p.Leu216= | |
| ENST00000526139.1:n.707T>C | ||
| NM_000372.4:c.646T>C | NP_000363.1:p.Leu216= | |
| XM_011542970.1:c.646T>C | XP_011541272.1:p.Leu216= | |
| XM_011542970.2:c.646T>C | XP_011541272.1:p.Leu216= | |
| XR_001748321.1:n.2718-65066A>G | ||
| XR_001748322.1:n.2733-65066A>G | ||
| NM_000372.5:c.646T>C MANE Select | NP_000363.1:p.Leu216= |