Linked Data
ClinVar Variation Id:
15687
dbSNP Id:
rs63751457
gnomAD v2:
16-222980-C-T
gnomAD v4:
16-172981-C-T
PubMed:
PMID:15481895
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172981C>T , CM000678.2:g.172981C>T | GRCh38 |
| NC_000016.9:g.222980C>T , CM000678.1:g.222980C>T | GRCh37 |
| NC_000016.8:g.162980C>T | NCBI36 |
| NG_000006.1:g.33844C>T | |
| NG_059186.1:g.1331C>T | |
| NG_059271.1:g.5135C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.69C>T MANE Select | ENSP00000251595.6:p.Gly23= | |
| ENST00000251595.10:c.69C>T | ENSP00000251595.6:p.Gly23= | |
| ENST00000397806.1:c.-2+23C>T | ENSP00000380908.1:n.-2+23C>T | |
| ENST00000482565.1:n.88C>T | ||
| ENST00000484216.1:n.38C>T | ||
| NM_000517.4:c.69C>T | NP_000508.1:p.Gly23= | |
| NM_000517.6:c.69C>T MANE Select | NP_000508.1:p.Gly23= |