Linked Data
ClinVar Variation Id:
338360
dbSNP Id:
rs71647829
ExAC:
20:3870266 C / G
gnomAD v2:
20-3870266-C-G
gnomAD v3:
20-3889619-C-G
gnomAD v4:
20-3889619-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3889619C>G , CM000682.2:g.3889619C>G | GRCh38 |
| NC_000020.10:g.3870266C>G , CM000682.1:g.3870266C>G | GRCh37 |
| NC_000020.9:g.3818266C>G | NCBI36 |
| NG_008131.3:g.5781C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.189C>G MANE Select | ENSP00000477429.2:p.Pro63= | |
| ENST00000316562.9:c.519C>G | ENSP00000313377.4:p.Pro173= | |
| ENST00000336066.8:c.189C>G | ENSP00000477229.2:p.Pro63= | |
| ENST00000610179.6:c.189C>G | ENSP00000477429.2:p.Pro63= | |
| ENST00000643504.2:c.189C>G | ENSP00000495157.2:p.Pro63= | |
| ENST00000316562.8:c.519C>G | ENSP00000313377.4:p.Pro173= | |
| ENST00000336066.7:c.150C>G | ENSP00000477229.1:p.Pro50= | |
| ENST00000495692.5:c.-538+603C>G | ENSP00000476745.1:n.-538+603C>G | |
| ENST00000497424.5:c.-246+715C>G | ENSP00000417609.1:n.-246+715C>G | |
| ENST00000610179.5:c.150C>G | ENSP00000477429.1:p.Pro50= | |
| NM_024960.4:c.-246+715C>G | NP_079236.3:n.-246+715C>G | |
| NM_153638.2:c.519C>G | NP_705902.2:p.Pro173= | |
| XM_005260836.3:c.-246+603C>G | XP_005260893.3:n.-246+603C>G | |
| XM_011529364.1:c.519C>G | XP_011527666.1:p.Pro173= | |
| XM_011529365.1:c.519C>G | XP_011527667.1:p.Pro173= | |
| NM_001324191.1:c.-523C>G | NP_001311120.1:n.-523C>G | |
| NM_001324192.1:c.519C>G | NP_001311121.1:p.Pro173= | |
| NM_024960.5:c.-246+715C>G | NP_079236.3:n.-246+715C>G | |
| NM_153638.3:c.519C>G | NP_705902.2:p.Pro173= | |
| NR_136715.1:n.686C>G | ||
| XM_005260836.4:c.-246+603C>G | XP_005260893.3:n.-246+603C>G | |
| XM_011529364.3:c.519C>G | XP_011527666.1:p.Pro173= | |
| XM_011529365.2:c.519C>G | XP_011527667.1:p.Pro173= | |
| XM_017028079.2:c.-538+603C>G | XP_016883568.1:n.-538+603C>G | |
| XM_024452002.1:c.-538+715C>G | XP_024307770.1:n.-538+715C>G | |
| XR_002958533.1:n.680C>G | ||
| NM_001324191.2:c.-523C>G | NP_001311120.1:n.-523C>G | |
| NM_024960.6:c.-246+715C>G | NP_079236.3:n.-246+715C>G | |
| NR_136715.2:n.233C>G | ||
| NM_001386393.1:c.189C>G MANE Select | NP_001373322.1:p.Pro63= | |
| NM_153638.4:c.519C>G | NP_705902.2:p.Pro173= |