Linked Data
ClinVar Variation Id:
15627
dbSNP Id:
rs41321345
gnomAD v2:
16-223598-A-C
gnomAD v4:
16-173599-A-C
PubMed:
PMID:1155453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173599A>C , CM000678.2:g.173599A>C | GRCh38 |
| NC_000016.9:g.223598A>C , CM000678.1:g.223598A>C | GRCh37 |
| NC_000016.8:g.163598A>C | NCBI36 |
| NG_000006.1:g.34462A>C | |
| NG_059186.1:g.1949A>C | |
| NG_059271.1:g.5753A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.428A>C MANE Select | ENSP00000251595.6:p.Ter143Ser | |
| ENST00000251595.10:c.428A>C | ENSP00000251595.6:p.Ter143Ser | |
| ENST00000397806.1:c.332A>C | ENSP00000380908.1:p.Ter111Ser | |
| ENST00000482565.1:n.564A>C | ||
| NM_000517.4:c.428A>C | NP_000508.1:p.Ter143Ser | |
| NM_000517.6:c.428A>C MANE Select | NP_000508.1:p.Ter143Ser |