Linked Data
ClinVar Variation Id:
402142
ClinVar RCV Id:
RCV000454213
dbSNP Id:
rs1060499740
gnomAD v4:
14-102348559-A-C
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102348559A>C , CM000676.2:g.102348559A>C | GRCh38 |
| NC_000014.8:g.102814896A>C , CM000676.1:g.102814896A>C | GRCh37 |
| NC_000014.7:g.101884649A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216756.11:c.637T>G MANE Select | ENSP00000216756.6:p.Ter213Gly | |
| ENST00000216756.10:c.637T>G | ENSP00000216756.6:p.Ter213Gly | |
| ENST00000536961.6:c.682T>G | ENSP00000442057.2:p.Ter228Gly | |
| ENST00000541568.6:c.*150T>G | ENSP00000442377.2:n.*150T>G | |
| ENST00000559504.5:c.638T>G | ||
| ENST00000559514.5:c.637T>G | ENSP00000453839.1:p.Ter213Gly | |
| NM_032630.2:c.637T>G | NP_116019.1:p.Ter213Gly | |
| XM_005267753.1:c.*150T>G | XP_005267810.1:n.*150T>G | |
| XM_011536830.1:c.682T>G | XP_011535132.1:p.Ter228Gly | |
| NM_001320046.1:c.*150T>G | NP_001306975.1:n.*150T>G | |
| NM_032630.3:c.637T>G MANE Select | NP_116019.1:p.Ter213Gly | |
| NM_001320046.2:c.*150T>G | NP_001306975.1:n.*150T>G |