Linked Data
ClinVar Variation Id:
2765271
ClinVar RCV Id:
RCV003515896
dbSNP Id:
rs745822791
gnomAD v4:
13-48304018-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48304018G>C , CM000675.2:g.48304018G>C | GRCh38 |
| NC_000013.10:g.48878154G>C , CM000675.1:g.48878154G>C | GRCh37 |
| NC_000013.9:g.47776155G>C | NCBI36 |
| NG_009009.1:g.5272G>C , LRG_517:g.5272G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.106G>C MANE Select | ENSP00000267163.4:p.Asp36His | |
| ENST00000646097.1:c.106G>C | ENSP00000496556.1:p.Asp36His | |
| ENST00000650461.1:c.106G>C | ENSP00000497193.1:p.Asp36His | |
| ENST00000267163.4:c.106G>C | ENSP00000267163.4:p.Asp36His | |
| ENST00000467505.5:c.106G>C | ENSP00000434702.1:p.Asp36His | |
| ENST00000525036.1:n.268G>C | ||
| NM_000321.2:c.106G>C , LRG_517t1:c.106G>C | NP_000312.2:p.Asp36His | |
| NM_000321.3:c.106G>C MANE Select | NP_000312.2:p.Asp36His |