Linked Data
ClinVar Variation Id:
2713555
ClinVar RCV Id:
RCV003515755
dbSNP Id:
rs1952050102
gnomAD v4:
13-48303837-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303837G>T , CM000675.2:g.48303837G>T | GRCh38 |
| NC_000013.10:g.48877973G>T , CM000675.1:g.48877973G>T | GRCh37 |
| NC_000013.9:g.47775974G>T | NCBI36 |
| NG_009009.1:g.5091G>T , LRG_517:g.5091G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.-76G>T MANE Select | ENSP00000267163.4:n.-76G>T | |
| ENST00000646097.1:c.-76G>T | ENSP00000496556.1:n.-76G>T | |
| ENST00000650461.1:c.-76G>T | ENSP00000497193.1:n.-76G>T | |
| ENST00000267163.4:c.-76G>T | ENSP00000267163.4:n.-76G>T | |
| ENST00000467505.5:c.-76G>T | ENSP00000434702.1:n.-76G>T | |
| ENST00000525036.1:n.87G>T | ||
| NM_000321.2:c.-76G>T , LRG_517t1:c.-76G>T | NP_000312.2:n.-76G>T | |
| NM_000321.3:c.-76G>T MANE Select | NP_000312.2:n.-76G>T |