Linked Data
ClinVar Variation Id:
218889
ClinVar RCV Id:
RCV000203232
dbSNP Id:
rs864309655
PubMed:
PMID:26522471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88518750G>C , CM000674.2:g.88518750G>C | GRCh38 |
| NC_000012.11:g.88912527G>C , CM000674.1:g.88912527G>C | GRCh37 |
| NC_000012.10:g.87436658G>C | NCBI36 |
| NG_012098.1:g.66712C>G | |
| NG_012098.2:g.66712C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347404.10:c.310C>G | ENSP00000054216.5:p.Leu104Val | |
| ENST00000644744.1:c.310C>G MANE Select | ENSP00000495951.1:p.Leu104Val | |
| ENST00000646633.1:c.*311C>G | ENSP00000494139.1:n.*311C>G | |
| ENST00000228280.9:c.310C>G | ENSP00000228280.5:p.Leu104Val | |
| ENST00000347404.9:c.310C>G | ENSP00000054216.5:p.Leu104Val | |
| ENST00000357116.4:c.-47-11613C>G | ENSP00000474021.1:n.-47-11613C>G | |
| ENST00000378535.4:n.253C>G | ||
| NM_000899.4:c.310C>G | NP_000890.1:p.Leu104Val | |
| NM_003994.5:c.310C>G | NP_003985.2:p.Leu104Val | |
| NM_000899.5:c.310C>G MANE Select | NP_000890.1:p.Leu104Val | |
| NM_003994.6:c.310C>G | NP_003985.2:p.Leu104Val |