Linked Data
dbSNP Id:
rs17321050
gnomAD v2:
X-9613099-T-G
gnomAD v3:
X-9645059-T-G
gnomAD v4:
X-9645059-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9645059T>G , CM000685.2:g.9645059T>G | GRCh38 |
| NC_000023.10:g.9613099T>G , CM000685.1:g.9613099T>G | GRCh37 |
| NC_000023.9:g.9573099T>G | NCBI36 |
| NG_053005.1:g.186765T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407597.7:c.-43+4699T>G | ENSP00000385988.2:n.-43+4699T>G | |
| ENST00000415293.6:n.473+4699T>G | ||
| ENST00000424279.6:c.-51+4699T>G | ENSP00000394097.1:n.-51+4699T>G | |
| ENST00000683056.1:c.-204+4699T>G | ENSP00000507708.1:n.-204+4699T>G | |
| ENST00000645353.2:c.-43+4699T>G MANE Select | ENSP00000496215.1:n.-43+4699T>G | |
| ENST00000645686.1:c.-43+4699T>G | ENSP00000493782.1:n.-43+4699T>G | |
| ENST00000646640.1:c.-43+4699T>G | ENSP00000495556.1:n.-43+4699T>G | |
| ENST00000647060.1:c.-51+4699T>G | ENSP00000495467.1:n.-51+4699T>G | |
| ENST00000647172.1:c.-51+4699T>G | ENSP00000495835.1:n.-51+4699T>G | |
| ENST00000217964.11:c.-43+4699T>G | ENSP00000217964.7:n.-43+4699T>G | |
| ENST00000380961.5:c.-51+4699T>G | ENSP00000370348.1:n.-51+4699T>G | |
| ENST00000407597.6:c.-43+4699T>G | ENSP00000385988.2:n.-43+4699T>G | |
| ENST00000415293.5:c.-51+4699T>G | ENSP00000407069.1:n.-51+4699T>G | |
| ENST00000422314.5:c.-51+4699T>G | ENSP00000415508.1:n.-51+4699T>G | |
| ENST00000424279.5:c.-51+4699T>G | ENSP00000394097.1:n.-51+4699T>G | |
| ENST00000441088.5:c.-43+4699T>G | ENSP00000402923.1:n.-43+4699T>G | |
| ENST00000452824.5:c.-43+4699T>G | ENSP00000397878.1:n.-43+4699T>G | |
| ENST00000497555.1:n.587T>G | ||
| NM_001139466.1:c.-43+4699T>G | NP_001132938.1:n.-43+4699T>G | |
| NM_001139467.1:c.-51+4699T>G | NP_001132939.1:n.-51+4699T>G | |
| NM_001139468.1:c.-51+4699T>G | NP_001132940.1:n.-51+4699T>G | |
| NM_005647.3:c.-43+4699T>G | NP_005638.1:n.-43+4699T>G | |
| XM_011545571.1:c.-51+4699T>G | XP_011543873.1:n.-51+4699T>G | |
| XM_011545571.3:c.-51+4699T>G | XP_011543873.1:n.-51+4699T>G | |
| NM_005647.4:c.-43+4699T>G MANE Select | NP_005638.1:n.-43+4699T>G |