Linked Data
dbSNP Id:
rs1046060793
gnomAD v2:
7-55259403-C-G
gnomAD v3:
7-55191710-C-G
gnomAD v4:
7-55191710-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191710C>G , CM000669.2:g.55191710C>G | GRCh38 |
| NC_000007.13:g.55259403C>G , CM000669.1:g.55259403C>G | GRCh37 |
| NC_000007.12:g.55226897C>G | NCBI36 |
| NG_007726.3:g.177679C>G , LRG_304:g.177679C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2311-9C>G | ENSP00000413354.2:n.2311-9C>G | |
| ENST00000700145.1:c.819-9C>G | ||
| ENST00000275493.7:c.2470-9C>G MANE Select | ENSP00000275493.2:n.2470-9C>G | |
| ENST00000275493.6:c.2470-9C>G | ENSP00000275493.2:n.2470-9C>G | |
| ENST00000442591.5:c.*28+18782C>G | ENSP00000410031.1:n.*28+18782C>G | |
| ENST00000454757.6:c.2335-9C>G | ENSP00000395243.3:n.2335-9C>G | |
| ENST00000455089.5:c.2335-9C>G | ENSP00000415559.1:n.2335-9C>G | |
| NM_005228.3:c.2470-9C>G , LRG_304t1:c.2470-9C>G | NP_005219.2:n.2470-9C>G | |
| NM_001346897.1:c.2335-9C>G | NP_001333826.1:n.2335-9C>G | |
| NM_001346898.1:c.2470-9C>G | NP_001333827.1:n.2470-9C>G | |
| NM_001346899.1:c.2335-9C>G | NP_001333828.1:n.2335-9C>G | |
| NM_001346900.1:c.2311-9C>G | NP_001333829.1:n.2311-9C>G | |
| NM_001346941.1:c.1669-9C>G | NP_001333870.1:n.1669-9C>G | |
| NM_005228.4:c.2470-9C>G | NP_005219.2:n.2470-9C>G | |
| NM_005228.5:c.2470-9C>G MANE Select | NP_005219.2:n.2470-9C>G | |
| NM_001346897.2:c.2335-9C>G | NP_001333826.1:n.2335-9C>G | |
| NM_001346898.2:c.2470-9C>G | NP_001333827.1:n.2470-9C>G | |
| NM_001346900.2:c.2311-9C>G | NP_001333829.1:n.2311-9C>G | |
| NM_001346941.2:c.1669-9C>G | NP_001333870.1:n.1669-9C>G | |
| NM_001346899.2:c.2335-9C>G | NP_001333828.1:n.2335-9C>G |