Linked Data
ClinVar Variation Id:
2565230
ClinVar RCV Id:
RCV003301753
dbSNP Id:
rs2138028058
gnomAD v4:
13-48304045-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48304045G>C , CM000675.2:g.48304045G>C | GRCh38 |
| NC_000013.10:g.48878181G>C , CM000675.1:g.48878181G>C | GRCh37 |
| NC_000013.9:g.47776182G>C | NCBI36 |
| NG_009009.1:g.5299G>C , LRG_517:g.5299G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.133G>C MANE Select | ENSP00000267163.4:p.Val45Leu | |
| ENST00000646097.1:c.133G>C | ENSP00000496556.1:p.Val45Leu | |
| ENST00000650461.1:c.133G>C | ENSP00000497193.1:p.Val45Leu | |
| ENST00000267163.4:c.133G>C | ENSP00000267163.4:p.Val45Leu | |
| ENST00000467505.5:c.133G>C | ENSP00000434702.1:p.Val45Leu | |
| ENST00000525036.1:n.295G>C | ||
| NM_000321.2:c.133G>C , LRG_517t1:c.133G>C | NP_000312.2:p.Val45Leu | |
| NM_000321.3:c.133G>C MANE Select | NP_000312.2:p.Val45Leu |