Linked Data
ClinVar Variation Id:
3207208
ClinVar RCV Id:
RCV004504572
dbSNP Id:
rs893825249
gnomAD v3:
16-21710101-A-C
gnomAD v4:
16-21710101-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21710101A>C , CM000678.2:g.21710101A>C | GRCh38 |
| NC_000016.9:g.21721422A>C , CM000678.1:g.21721422A>C | GRCh37 |
| NC_000016.8:g.21628923A>C | NCBI36 |
| NG_012973.1:g.36588A>C | |
| NG_012973.2:g.50969A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.1318A>C | ENSP00000373610.3:p.Lys440Gln | |
| ENST00000646100.2:c.1318A>C MANE Select | ENSP00000496564.2:p.Lys440Gln | |
| ENST00000647277.1:c.*132A>C | ENSP00000495594.1:n.*132A>C | |
| ENST00000286149.8:c.1360A>C | ENSP00000286149.4:p.Lys454Gln | |
| ENST00000388956.8:c.1081A>C | ENSP00000373608.4:p.Lys361Gln | |
| ENST00000388957.3:c.346A>C | ENSP00000373609.3:p.Lys116Gln | |
| ENST00000388958.7:c.1318A>C | ENSP00000373610.3:p.Lys440Gln | |
| ENST00000563871.5:n.538A>C | ||
| NM_001161683.1:c.1081A>C | NP_001155155.1:p.Lys361Gln | |
| NM_144672.3:c.1318A>C | NP_653273.3:p.Lys440Gln | |
| NM_170664.2:c.346A>C | NP_733764.1:p.Lys116Gln | |
| XM_011545747.1:c.1318A>C | XP_011544049.1:p.Lys440Gln | |
| XM_011545748.1:c.187A>C | XP_011544050.1:p.Lys63Gln | |
| NM_144672.4:c.1318A>C MANE Select | NP_653273.3:p.Lys440Gln | |
| XM_011545748.2:c.187A>C | XP_011544050.2:p.Lys63Gln | |
| XR_002957775.1:n.413A>C | ||
| NM_001161683.2:c.1081A>C | NP_001155155.1:p.Lys361Gln | |
| NM_170664.3:c.346A>C | NP_733764.1:p.Lys116Gln |