Linked Data
ClinVar Variation Id:
1643
dbSNP Id:
rs72547569
ExAC:
17:19561175 G / C
gnomAD v2:
17-19561175-G-C
gnomAD v3:
17-19657862-G-C
gnomAD v4:
17-19657862-G-C
MyVariant Identifiers:
chr17:g.19561175G>C (hg19)
chr17:g.19561175_19561181delinsCGTTTGT (hg19)
chr17:g.19657862G>C (hg38)
PubMed:
PMID:10577908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19657862G>C , CM000679.2:g.19657862G>C | GRCh38 |
| NC_000017.10:g.19561175G>C , CM000679.1:g.19561175G>C | GRCh37 |
| NC_000017.9:g.19501767G>C | NCBI36 |
| NG_007095.2:g.14112G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.798G>C MANE Select | ENSP00000176643.6:p.Lys266Asn | |
| ENST00000395575.7:c.472-3265G>C | ENSP00000378942.3:n.472-3265G>C | |
| ENST00000472059.6:c.*356G>C | ENSP00000458397.1:n.*356G>C | |
| ENST00000581518.6:c.798G>C | ENSP00000461916.2:p.Lys266Asn | |
| ENST00000582991.6:c.798G>C | ENSP00000464153.1:p.Lys266Asn | |
| ENST00000671841.1:n.2477G>C | ||
| ENST00000671878.1:c.798G>C | ENSP00000500516.1:p.Lys266Asn | |
| ENST00000672059.1:n.1249G>C | ||
| ENST00000672322.1:n.1869G>C | ||
| ENST00000672357.1:c.798G>C | ENSP00000500092.1:p.Lys266Asn | |
| ENST00000672465.1:c.798G>C | ENSP00000500517.1:p.Lys266Asn | |
| ENST00000672487.1:c.680+1288G>C | ENSP00000500740.1:n.680+1288G>C | |
| ENST00000672564.1:n.1019G>C | ||
| ENST00000672567.1:c.689G>C | ||
| ENST00000672608.1:n.1787G>C | ||
| ENST00000672709.1:c.652G>C | ||
| ENST00000673136.1:c.798G>C | ENSP00000500380.1:p.Lys266Asn | |
| ENST00000673472.1:n.1134G>C | ||
| ENST00000176643.10:c.798G>C | ENSP00000176643.6:p.Lys266Asn | |
| ENST00000339618.8:c.798G>C | ENSP00000345774.4:p.Lys266Asn | |
| ENST00000395575.6:c.798G>C | ENSP00000378942.2:p.Lys266Asn | |
| ENST00000472059.5:c.*356G>C | ENSP00000458397.1:n.*356G>C | |
| ENST00000476965.5:n.548G>C | ||
| ENST00000571537.1:c.291G>C | ENSP00000458942.1:p.Lys97Asn | |
| ENST00000578696.1:c.229G>C | ||
| ENST00000579855.5:c.798G>C | ENSP00000463637.1:p.Lys266Asn | |
| ENST00000581518.5:c.798G>C | ENSP00000461916.1:p.Lys266Asn | |
| ENST00000582991.5:c.798G>C | ENSP00000464153.1:p.Lys266Asn | |
| ENST00000630662.2:c.-184G>C | ENSP00000487353.1:n.-184G>C | |
| ENST00000631291.2:c.798G>C | ENSP00000486085.1:p.Lys266Asn | |
| NM_000382.2:c.798G>C | NP_000373.1:p.Lys266Asn | |
| NM_001031806.1:c.798G>C | NP_001026976.1:p.Lys266Asn | |
| XM_011523732.1:c.798G>C | XP_011522034.1:p.Lys266Asn | |
| XM_011523733.1:c.798G>C | XP_011522035.1:p.Lys266Asn | |
| XM_011523733.2:c.798G>C | XP_011522035.1:p.Lys266Asn | |
| XM_017024355.1:c.798G>C | XP_016879844.1:p.Lys266Asn | |
| XM_017024356.2:c.798G>C | XP_016879845.1:p.Lys266Asn | |
| XM_017024357.1:c.798G>C | XP_016879846.1:p.Lys266Asn | |
| XM_017024358.2:c.798G>C | XP_016879847.1:p.Lys266Asn | |
| XM_024450651.1:c.219G>C | XP_024306419.1:p.Lys73Asn | |
| XM_024450652.1:c.219G>C | XP_024306420.1:p.Lys73Asn | |
| NM_000382.3:c.798G>C MANE Select | NP_000373.1:p.Lys266Asn | |
| NM_001031806.2:c.798G>C | NP_001026976.1:p.Lys266Asn | |
| NM_001369136.1:c.798G>C | NP_001356065.1:p.Lys266Asn | |
| NM_001369137.1:c.798G>C | NP_001356066.1:p.Lys266Asn | |
| NM_001369138.1:c.798G>C | NP_001356067.1:p.Lys266Asn | |
| NM_001369139.1:c.798G>C | NP_001356068.1:p.Lys266Asn | |
| NM_001369146.1:c.798G>C | NP_001356075.1:p.Lys266Asn | |
| NM_001369148.1:c.219G>C | NP_001356077.1:p.Lys73Asn | |
| NM_001369137.2:c.798G>C | NP_001356066.1:p.Lys266Asn | |
| NM_001369138.2:c.798G>C | NP_001356067.1:p.Lys266Asn | |
| NM_001369146.2:c.798G>C | NP_001356075.1:p.Lys266Asn | |
| NM_001369148.2:c.219G>C | NP_001356077.1:p.Lys73Asn |