Linked Data
ClinVar Variation Id:
489173
dbSNP Id:
rs748853895
ExAC:
9:304573 C / G
gnomAD v2:
9-304573-C-G
gnomAD v3:
9-304573-C-G
gnomAD v4:
9-304573-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.304573C>G , CM000671.2:g.304573C>G | GRCh38 |
| NC_000009.11:g.304573C>G , CM000671.1:g.304573C>G | GRCh37 |
| NC_000009.10:g.294573C>G | NCBI36 |
| NG_017007.1:g.94709C>G , LRG_196:g.94709C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.201-8C>G | ENSP00000371766.2:n.201-8C>G | |
| ENST00000483757.6:c.201-8C>G | ENSP00000417691.2:n.201-8C>G | |
| ENST00000682249.1:c.201-8C>G | ENSP00000507731.1:n.201-8C>G | |
| ENST00000684384.1:n.514-8C>G | ||
| ENST00000432829.7:c.405-8C>G MANE Select | ENSP00000394888.3:n.405-8C>G | |
| ENST00000382341.5:n.300-8C>G | ||
| ENST00000432829.6:c.405-8C>G | ENSP00000394888.3:n.405-8C>G | |
| ENST00000453981.5:c.201-8C>G | ENSP00000408464.2:n.201-8C>G | |
| ENST00000454469.6:n.514-8C>G | ||
| ENST00000469391.5:c.201-8C>G | ENSP00000419438.1:n.201-8C>G | |
| ENST00000478380.5:n.284-8C>G | ||
| ENST00000483757.5:c.201-8C>G | ENSP00000417691.1:n.201-8C>G | |
| ENST00000487230.5:c.201-8C>G | ENSP00000418318.1:n.201-8C>G | |
| ENST00000495184.5:n.266-8C>G | ||
| ENST00000524396.5:c.*368-8C>G | ENSP00000436628.1:n.*368-8C>G | |
| NM_001190458.1:c.201-8C>G | NP_001177387.1:n.201-8C>G | |
| NM_001193536.1:c.201-8C>G | NP_001180465.1:n.201-8C>G | |
| NM_203447.3:c.405-8C>G , LRG_196t1:c.405-8C>G | NP_982272.2:n.405-8C>G | |
| XM_011518045.1:c.201-8C>G | XP_011516347.1:n.201-8C>G | |
| XM_011518046.1:c.267-8C>G | XP_011516348.1:n.267-8C>G | |
| XM_011518047.1:c.201-8C>G | XP_011516349.1:n.201-8C>G | |
| XM_011518048.1:c.201-8C>G | XP_011516350.1:n.201-8C>G | |
| XM_011518045.3:c.201-8C>G | XP_011516347.1:n.201-8C>G | |
| XM_011518046.2:c.267-8C>G | XP_011516348.1:n.267-8C>G | |
| XM_011518047.3:c.201-8C>G | XP_011516349.1:n.201-8C>G | |
| XM_011518048.2:c.201-8C>G | XP_011516350.1:n.201-8C>G | |
| XM_017015173.1:c.201-8C>G | XP_016870662.1:n.201-8C>G | |
| XM_017015174.1:c.267-8C>G | XP_016870663.1:n.267-8C>G | |
| NM_001190458.2:c.201-8C>G | NP_001177387.1:n.201-8C>G | |
| NM_001193536.2:c.201-8C>G | NP_001180465.1:n.201-8C>G | |
| NM_203447.4:c.405-8C>G MANE Select | NP_982272.2:n.405-8C>G |