Linked Data
ClinVar Variation Id:
2999297
ClinVar RCV Id:
RCV003851928
dbSNP Id:
rs1014258510
gnomAD v3:
13-48303828-G-C
gnomAD v4:
13-48303828-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303828G>C , CM000675.2:g.48303828G>C | GRCh38 |
| NC_000013.10:g.48877964G>C , CM000675.1:g.48877964G>C | GRCh37 |
| NC_000013.9:g.47775965G>C | NCBI36 |
| NG_009009.1:g.5082G>C , LRG_517:g.5082G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.-85G>C MANE Select | ENSP00000267163.4:n.-85G>C | |
| ENST00000646097.1:c.-85G>C | ENSP00000496556.1:n.-85G>C | |
| ENST00000650461.1:c.-85G>C | ENSP00000497193.1:n.-85G>C | |
| ENST00000267163.4:c.-85G>C | ENSP00000267163.4:n.-85G>C | |
| ENST00000467505.5:c.-85G>C | ENSP00000434702.1:n.-85G>C | |
| ENST00000525036.1:n.78G>C | ||
| NM_000321.2:c.-85G>C , LRG_517t1:c.-85G>C | NP_000312.2:n.-85G>C | |
| NM_000321.3:c.-85G>C MANE Select | NP_000312.2:n.-85G>C |