Linked Data
ClinVar Variation Id:
801178
ClinVar RCV Id:
RCV000985728
dbSNP Id:
rs281864817
gnomAD v2:
16-222975-G-C
gnomAD v3:
16-172976-G-C
gnomAD v4:
16-172976-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172976G>C , CM000678.2:g.172976G>C | GRCh38 |
| NC_000016.9:g.222975G>C , CM000678.1:g.222975G>C | GRCh37 |
| NC_000016.8:g.162975G>C | NCBI36 |
| NG_000006.1:g.33839G>C | |
| NG_059186.1:g.1326G>C | |
| NG_059271.1:g.5130G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.64G>C MANE Select | ENSP00000251595.6:p.Ala22Pro | |
| ENST00000251595.10:c.64G>C | ENSP00000251595.6:p.Ala22Pro | |
| ENST00000397806.1:c.-2+18G>C | ENSP00000380908.1:n.-2+18G>C | |
| ENST00000482565.1:n.83G>C | ||
| ENST00000484216.1:n.33G>C | ||
| NM_000517.4:c.64G>C | NP_000508.1:p.Ala22Pro | |
| NM_000517.6:c.64G>C MANE Select | NP_000508.1:p.Ala22Pro |