Linked Data
ClinVar Variation Id:
285560
dbSNP Id:
rs886043138
gnomAD v2:
13-48878064-C-T
gnomAD v3:
13-48303928-C-T
gnomAD v4:
13-48303928-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303928C>T , CM000675.2:g.48303928C>T | GRCh38 |
| NC_000013.10:g.48878064C>T , CM000675.1:g.48878064C>T | GRCh37 |
| NC_000013.9:g.47776065C>T | NCBI36 |
| NG_009009.1:g.5182C>T , LRG_517:g.5182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.16C>T MANE Select | ENSP00000267163.4:p.Pro6Ser | |
| ENST00000646097.1:c.16C>T | ENSP00000496556.1:p.Pro6Ser | |
| ENST00000650461.1:c.16C>T | ENSP00000497193.1:p.Pro6Ser | |
| ENST00000267163.4:c.16C>T | ENSP00000267163.4:p.Pro6Ser | |
| ENST00000467505.5:c.16C>T | ENSP00000434702.1:p.Pro6Ser | |
| ENST00000525036.1:n.178C>T | ||
| NM_000321.2:c.16C>T , LRG_517t1:c.16C>T | NP_000312.2:p.Pro6Ser | |
| NM_000321.3:c.16C>T MANE Select | NP_000312.2:p.Pro6Ser |