Linked Data
ClinVar Variation Id:
1780360
dbSNP Id:
rs755482658
ExAC:
13:48878065 C / T
gnomAD v2:
13-48878065-C-T
gnomAD v4:
13-48303929-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303929C>T , CM000675.2:g.48303929C>T | GRCh38 |
| NC_000013.10:g.48878065C>T , CM000675.1:g.48878065C>T | GRCh37 |
| NC_000013.9:g.47776066C>T | NCBI36 |
| NG_009009.1:g.5183C>T , LRG_517:g.5183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.17C>T MANE Select | ENSP00000267163.4:p.Pro6Leu | |
| ENST00000646097.1:c.17C>T | ENSP00000496556.1:p.Pro6Leu | |
| ENST00000650461.1:c.17C>T | ENSP00000497193.1:p.Pro6Leu | |
| ENST00000267163.4:c.17C>T | ENSP00000267163.4:p.Pro6Leu | |
| ENST00000467505.5:c.17C>T | ENSP00000434702.1:p.Pro6Leu | |
| ENST00000525036.1:n.179C>T | ||
| NM_000321.2:c.17C>T , LRG_517t1:c.17C>T | NP_000312.2:p.Pro6Leu | |
| NM_000321.3:c.17C>T MANE Select | NP_000312.2:p.Pro6Leu |