Linked Data
dbSNP Id:
rs1341164
gnomAD v2:
10-96800873-T-C
gnomAD v3:
10-95041116-T-C
gnomAD v4:
10-95041116-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95041116T>C , CM000672.2:g.95041116T>C | GRCh38 |
| NC_000010.10:g.96800873T>C , CM000672.1:g.96800873T>C | GRCh37 |
| NC_000010.9:g.96790863T>C | NCBI36 |
| NG_007972.1:g.33382A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371270.6:c.1149+1774A>G MANE Select | ENSP00000360317.3:n.1149+1774A>G | |
| ENST00000371270.5:c.1149+1774A>G | ENSP00000360317.3:n.1149+1774A>G | |
| ENST00000479946.2:n.1454-156A>G | ||
| ENST00000490994.6:c.*935+1774A>G | ENSP00000433314.1:n.*935+1774A>G | |
| ENST00000525991.5:c.*724+1774A>G | ENSP00000433842.1:n.*724+1774A>G | |
| ENST00000526814.5:n.1404+1774A>G | ||
| ENST00000527420.5:c.1150-156A>G | ENSP00000433191.1:n.1150-156A>G | |
| ENST00000527953.5:n.1405-156A>G | ||
| ENST00000533320.5:n.1383+1774A>G | ||
| ENST00000535898.5:c.843+1774A>G | ENSP00000445062.1:n.843+1774A>G | |
| ENST00000539050.5:c.939+1774A>G | ENSP00000442343.2:n.939+1774A>G | |
| ENST00000623108.3:c.939+1774A>G | ENSP00000485110.1:n.939+1774A>G | |
| ENST00000628935.1:c.892-156A>G | ENSP00000487145.1:n.892-156A>G | |
| NM_000770.3:c.1149+1774A>G MANE Select | NP_000761.3:n.1149+1774A>G | |
| NM_001198853.1:c.939+1774A>G | NP_001185782.1:n.939+1774A>G | |
| NM_001198854.1:c.843+1774A>G | NP_001185783.1:n.843+1774A>G | |
| NM_001198855.1:c.939+1774A>G | NP_001185784.1:n.939+1774A>G | |
| XR_945610.1:n.1246-156A>G |