Linked Data
dbSNP Id:
rs1334599116
gnomAD v2:
10-96800607-G-C
gnomAD v3:
10-95040850-G-C
gnomAD v4:
10-95040850-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95040850G>C , CM000672.2:g.95040850G>C | GRCh38 |
| NC_000010.10:g.96800607G>C , CM000672.1:g.96800607G>C | GRCh37 |
| NC_000010.9:g.96790597G>C | NCBI36 |
| NG_007972.1:g.33648C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.1150-1812C>G MANE Select | ENSP00000360317.3:n.1150-1812C>G | |
| ENST00000371270.5:c.1150-1812C>G | ENSP00000360317.3:n.1150-1812C>G | |
| ENST00000479946.2:n.1492+72C>G | ||
| ENST00000490994.6:c.*936-1812C>G | ENSP00000433314.1:n.*936-1812C>G | |
| ENST00000525991.5:c.*725-1812C>G | ENSP00000433842.1:n.*725-1812C>G | |
| ENST00000526814.5:n.1405-1812C>G | ||
| ENST00000527420.5:c.*6+72C>G | ENSP00000433191.1:n.*6+72C>G | |
| ENST00000527953.5:n.1443+72C>G | ||
| ENST00000533320.5:n.1384-1812C>G | ||
| ENST00000535898.5:c.844-1812C>G | ENSP00000445062.1:n.844-1812C>G | |
| ENST00000539050.5:c.940-1812C>G | ENSP00000442343.2:n.940-1812C>G | |
| ENST00000623108.3:c.940-1812C>G | ENSP00000485110.1:n.940-1812C>G | |
| NM_000770.3:c.1150-1812C>G MANE Select | NP_000761.3:n.1150-1812C>G | |
| NM_001198853.1:c.940-1812C>G | NP_001185782.1:n.940-1812C>G | |
| NM_001198854.1:c.844-1812C>G | NP_001185783.1:n.844-1812C>G | |
| NM_001198855.1:c.940-1812C>G | NP_001185784.1:n.940-1812C>G | |
| XR_945610.1:n.1284+72C>G |