Linked Data
ClinVar Variation Id:
1609814
dbSNP Id:
rs757633295
ExAC:
10:102509555 C / G
gnomAD v2:
10-102509555-C-G
gnomAD v3:
10-100749798-C-G
gnomAD v4:
10-100749798-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100749798C>G , CM000672.2:g.100749798C>G | GRCh38 |
| NC_000010.10:g.102509555C>G , CM000672.1:g.102509555C>G | GRCh37 |
| NC_000010.9:g.102499545C>G | NCBI36 |
| NG_008680.1:g.9088C>G | |
| NG_008680.2:g.19090C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707078.1:c.189C>G | ENSP00000516729.1:p.Pro63= | |
| ENST00000707079.1:c.96C>G | ENSP00000516730.1:p.Pro32= | |
| ENST00000355243.8:c.96C>G MANE Select | ENSP00000347385.3:p.Pro32= | |
| ENST00000427256.6:c.96C>G | ENSP00000398652.2:p.Pro32= | |
| ENST00000679374.1:c.78C>G | ENSP00000506041.1:p.Pro26= | |
| ENST00000355243.7:c.96C>G | ENSP00000347385.2:p.Pro32= | |
| ENST00000361791.7:c.93C>G | ENSP00000355069.4:p.Pro31= | |
| ENST00000370296.6:c.96C>G | ENSP00000359319.3:p.Pro32= | |
| ENST00000427256.5:c.96C>G | ENSP00000398652.1:p.Pro32= | |
| ENST00000428433.5:c.96C>G | ENSP00000396259.1:p.Pro32= | |
| ENST00000483202.2:n.1098C>G | ||
| ENST00000553492.5:n.131+14065C>G | ||
| ENST00000554172.2:c.108C>G | ENSP00000452489.2:p.Pro36= | |
| ENST00000554363.2:n.125+3495C>G | ||
| NM_000278.3:c.96C>G | NP_000269.2:p.Pro32= | |
| NM_001304569.1:c.189C>G | NP_001291498.1:p.Pro63= | |
| NM_003987.3:c.96C>G | NP_003978.2:p.Pro32= | |
| NM_003988.3:c.96C>G | NP_003979.2:p.Pro32= | |
| NM_003989.3:c.96C>G | NP_003980.2:p.Pro32= | |
| NM_003990.3:c.96C>G | NP_003981.2:p.Pro32= | |
| NM_000278.4:c.96C>G | NP_000269.3:p.Pro32= | |
| NM_003987.4:c.96C>G | NP_003978.3:p.Pro32= | |
| NM_003988.4:c.96C>G | NP_003979.2:p.Pro32= | |
| NM_003989.4:c.96C>G | NP_003980.3:p.Pro32= | |
| NM_003990.4:c.96C>G | NP_003981.3:p.Pro32= | |
| NM_000278.5:c.96C>G MANE Select | NP_000269.3:p.Pro32= | |
| NM_001304569.2:c.189C>G | NP_001291498.1:p.Pro63= | |
| NM_003987.5:c.96C>G | NP_003978.3:p.Pro32= | |
| NM_003988.5:c.96C>G | NP_003979.2:p.Pro32= | |
| NM_003989.5:c.96C>G | NP_003980.3:p.Pro32= | |
| NM_003990.5:c.96C>G | NP_003981.3:p.Pro32= |