Linked Data
ClinVar Variation Id:
288019
dbSNP Id:
rs144238669
ExAC:
17:40695768 G / C
gnomAD v2:
17-40695768-G-C
gnomAD v4:
17-42543750-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543750G>C , CM000679.2:g.42543750G>C | GRCh38 |
| NC_000017.10:g.40695768G>C , CM000679.1:g.40695768G>C | GRCh37 |
| NC_000017.9:g.37949294G>C | NCBI36 |
| NG_011552.1:g.12818G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1744G>C MANE Select | ENSP00000225927.1:p.Ala582Pro | |
| ENST00000225927.6:c.1744G>C | ENSP00000225927.1:p.Ala582Pro | |
| ENST00000591587.1:c.1082G>C | ENSP00000467836.1:n.1082G>C | |
| NM_000263.3:c.1744G>C | NP_000254.2:p.Ala582Pro | |
| XM_006721920.2:c.913G>C | XP_006721983.1:p.Ala305Pro | |
| XM_011524840.1:c.745G>C | XP_011523142.1:p.Ala249Pro | |
| XM_017024687.1:c.913G>C | XP_016880176.1:p.Ala305Pro | |
| XM_024450771.1:c.1801G>C | XP_024306539.1:p.Ala601Pro | |
| XM_024450772.1:c.745G>C | XP_024306540.1:p.Ala249Pro | |
| NM_000263.4:c.1744G>C MANE Select | NP_000254.2:p.Ala582Pro |