Linked Data
ClinVar Variation Id:
299839
ClinVar RCV Id:
RCV000324967
dbSNP Id:
rs763254596
ExAC:
10:27827972 C / A
gnomAD v2:
10-27827972-C-A
gnomAD v4:
10-27539043-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27539043C>A , CM000672.2:g.27539043C>A | GRCh38 |
| NC_000010.10:g.27827972C>A , CM000672.1:g.27827972C>A | GRCh37 |
| NC_000010.9:g.27867978C>A | NCBI36 |
| NG_032035.1:g.39870C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535776.6:c.*1146C>A | ENSP00000439321.2:n.*1146C>A | |
| ENST00000611151.5:c.*1401C>A | ENSP00000483927.2:n.*1401C>A | |
| ENST00000621805.5:c.*992C>A | ENSP00000478479.1:n.*992C>A | |
| ENST00000682082.1:c.*171+821C>A | ENSP00000507542.1:n.*171+821C>A | |
| ENST00000682173.1:c.1291C>A | ||
| ENST00000682181.1:c.*1918C>A | ENSP00000507392.1:n.*1918C>A | |
| ENST00000682347.1:c.68-3710C>A | ENSP00000508355.1:n.68-3710C>A | |
| ENST00000682389.1:c.*992C>A | ENSP00000507154.1:n.*992C>A | |
| ENST00000682518.1:n.1628C>A | ||
| ENST00000682668.1:c.1966C>A | ||
| ENST00000682777.1:n.2780C>A | ||
| ENST00000682852.1:c.*1458C>A | ENSP00000508341.1:n.*1458C>A | |
| ENST00000682963.1:c.*992C>A | ENSP00000507532.1:n.*992C>A | |
| ENST00000683030.1:c.150+1018C>A | ||
| ENST00000683419.1:c.*1334C>A | ENSP00000508094.1:n.*1334C>A | |
| ENST00000683755.1:c.*1201C>A | ENSP00000506993.1:n.*1201C>A | |
| ENST00000683816.1:c.*1536C>A | ENSP00000507834.1:n.*1536C>A | |
| ENST00000683915.1:c.153+1015C>A | ||
| ENST00000684134.1:n.6573C>A | ||
| ENST00000684191.1:c.68-2959C>A | ENSP00000508185.1:n.68-2959C>A | |
| ENST00000684393.1:c.*1918C>A | ENSP00000507136.1:n.*1918C>A | |
| ENST00000684457.1:c.150+1018C>A | ||
| ENST00000356940.11:c.*992C>A MANE Select | ENSP00000349415.7:n.*992C>A | |
| ENST00000356940.10:c.*992C>A | ENSP00000349415.6:n.*992C>A | |
| ENST00000535776.5:c.*992C>A | ENSP00000439321.1:n.*992C>A | |
| ENST00000611151.4:c.*992C>A | ENSP00000483927.1:n.*992C>A | |
| ENST00000621805.4:c.1700C>A | ENSP00000478479.1:n.1700C>A | |
| NM_001256410.1:c.*992C>A | NP_001243339.1:n.*992C>A | |
| NM_001256411.1:c.*952C>A | NP_001243340.1:n.*952C>A | |
| NM_001256412.1:c.*992C>A | NP_001243341.1:n.*992C>A | |
| NM_001256415.1:c.*992C>A | NP_001243344.1:n.*992C>A | |
| NM_021252.4:c.*992C>A | NP_067075.1:n.*992C>A | |
| NR_046172.1:n.1747C>A | ||
| NM_001256410.2:c.*992C>A | NP_001243339.1:n.*992C>A | |
| NM_001256411.2:c.*952C>A | NP_001243340.1:n.*952C>A | |
| NM_001256412.2:c.*992C>A | NP_001243341.1:n.*992C>A | |
| NM_001256415.2:c.*992C>A | NP_001243344.1:n.*992C>A | |
| NM_021252.5:c.*992C>A MANE Select | NP_067075.1:n.*992C>A | |
| NR_046172.2:n.1617C>A |