Linked Data
ClinVar Variation Id:
1319
ClinVar RCV Id:
RCV000001382
dbSNP Id:
rs121909395
ExAC:
20:3214583 A / G
gnomAD v2:
20-3214583-A-G
gnomAD v4:
20-3233937-A-G
PubMed:
PMID:17220209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3233937A>G , CM000682.2:g.3233937A>G | GRCh38 |
| NC_000020.10:g.3214583A>G , CM000682.1:g.3214583A>G | GRCh37 |
| NC_000020.9:g.3162583A>G | NCBI36 |
| NG_017072.1:g.10305T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642402.1:c.589T>C MANE Select | ENSP00000493503.1:p.Ser197Pro | |
| ENST00000644011.1:c.520T>C | ENSP00000496214.1:p.Ser174Pro | |
| ENST00000644692.1:c.532T>C | ENSP00000493824.1:p.Ser178Pro | |
| ENST00000647296.1:c.589T>C | ENSP00000495050.1:p.Ser197Pro | |
| ENST00000380056.7:c.637T>C | ENSP00000369396.3:p.Ser213Pro | |
| ENST00000380059.7:c.718T>C | ENSP00000369399.3:p.Ser240Pro | |
| ENST00000474451.5:c.532T>C | ENSP00000476859.1:p.Ser178Pro | |
| ENST00000539553.6:c.589T>C | ENSP00000441370.1:p.Ser197Pro | |
| NM_001174089.1:c.589T>C | NP_001167560.1:p.Ser197Pro | |
| NM_001174090.1:c.718T>C | NP_001167561.1:p.Ser240Pro | |
| NM_032034.3:c.637T>C | NP_114423.1:p.Ser213Pro | |
| XM_005260856.3:c.1072T>C | XP_005260913.1:p.Ser358Pro | |
| XM_005260857.1:c.532T>C | XP_005260914.1:p.Ser178Pro | |
| XM_011529383.1:c.556T>C | XP_011527685.1:p.Ser186Pro | |
| XM_011529384.1:c.532T>C | XP_011527686.1:p.Ser178Pro | |
| XM_011529385.1:c.532T>C | XP_011527687.1:p.Ser178Pro | |
| XM_011529386.1:c.1072T>C | XP_011527688.1:p.Ser358Pro | |
| XR_937167.1:n.757T>C | ||
| NM_001363745.1:c.589T>C | NP_001350674.1:p.Ser197Pro | |
| NR_135000.1:n.757T>C | ||
| XM_005260856.5:c.1072T>C | XP_005260913.1:p.Ser358Pro | |
| XM_011529383.3:c.556T>C | XP_011527685.1:p.Ser186Pro | |
| XM_017028093.1:c.1072T>C | XP_016883582.1:p.Ser358Pro | |
| XM_017028094.1:c.532T>C | XP_016883583.1:p.Ser178Pro | |
| XM_017028096.1:c.532T>C | XP_016883585.1:p.Ser178Pro | |
| XM_017028097.1:c.1072T>C | XP_016883586.1:p.Ser358Pro | |
| XR_001754419.1:n.1182T>C | ||
| XR_001754420.2:n.1182T>C | ||
| NM_001174089.2:c.589T>C MANE Select | NP_001167560.1:p.Ser197Pro | |
| NM_001363745.2:c.589T>C | NP_001350674.1:p.Ser197Pro | |
| NM_001174090.2:c.718T>C | NP_001167561.1:p.Ser240Pro | |
| NM_032034.4:c.637T>C | NP_114423.1:p.Ser213Pro | |
| NM_001400277.1:c.532T>C | NP_001387206.1:p.Ser178Pro | |
| NM_001400278.1:c.532T>C | NP_001387207.1:p.Ser178Pro | |
| NM_001400279.1:c.532T>C | NP_001387208.1:p.Ser178Pro | |
| NM_001400280.1:c.718T>C | NP_001387209.1:p.Ser240Pro | |
| NR_174470.1:n.1147T>C | ||
| NR_174471.1:n.1147T>C |