Linked Data
ClinVar Variation Id:
144013
ClinVar RCV Id:
RCV000133522
dbSNP Id:
rs587777637
gnomAD v4:
8-143215307-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143215307A>C , CM000670.2:g.143215307A>C | GRCh38 |
| NC_000008.10:g.144297182A>C , CM000670.1:g.144297182A>C | GRCh37 |
| NC_000008.9:g.144368557A>C | NCBI36 |
| NG_034256.1:g.7115A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622500.2:c.344A>C MANE Select | ENSP00000480053.1:p.Gln115Pro | |
| ENST00000622500.1:c.344A>C | ENSP00000480053.1:p.Gln115Pro | |
| NM_001301772.1:c.344A>C | NP_001288701.1:p.Gln115Pro | |
| NM_178172.5:c.344A>C | NP_835466.2:p.Gln115Pro | |
| NM_178172.6:c.344A>C MANE Select | NP_835466.2:p.Gln115Pro | |
| NM_001301772.2:c.344A>C | NP_001288701.1:p.Gln115Pro |