Linked Data
ClinVar Variation Id:
31934
ClinVar RCV Id:
RCV000024613
dbSNP Id:
rs387907204
gnomAD v4:
19-49812733-G-A
PubMed:
PMID:21840926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49812733G>A , CM000681.2:g.49812733G>A | GRCh38 |
| NC_000019.9:g.50315990G>A , CM000681.1:g.50315990G>A | GRCh37 |
| NC_000019.8:g.55007802G>A | NCBI36 |
| NG_032843.1:g.5578C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313777.9:c.115C>T MANE Select | ENSP00000313309.4:p.Pro39Ser | |
| ENST00000313777.8:c.115C>T | ENSP00000313309.4:p.Pro39Ser | |
| ENST00000377092.8:c.115C>T | ENSP00000366296.5:p.Pro39Ser | |
| ENST00000525130.5:c.115C>T | ENSP00000433492.1:p.Pro39Ser | |
| ENST00000525370.5:c.115C>T | ENSP00000431420.1:p.Pro39Ser | |
| ENST00000525800.5:c.-36C>T | ENSP00000471319.1:n.-36C>T | |
| ENST00000526435.1:c.112-48C>T | ENSP00000470155.1:n.112-48C>T | |
| ENST00000526575.1:c.115C>T | ENSP00000433164.1:p.Pro39Ser | |
| ENST00000527111.2:c.115C>T | ENSP00000469856.1:p.Pro39Ser | |
| ENST00000527585.5:c.111+263C>T | ENSP00000470863.1:n.111+263C>T | |
| ENST00000528043.5:c.-36C>T | ENSP00000431388.1:n.-36C>T | |
| ENST00000528094.5:c.115C>T | ENSP00000435177.1:p.Pro39Ser | |
| ENST00000529302.1:c.-163C>T | ENSP00000471793.1:n.-163C>T | |
| ENST00000531017.5:n.318C>T | ||
| ENST00000533418.5:c.-36C>T | ENSP00000431731.1:n.-36C>T | |
| ENST00000534008.5:n.250C>T | ||
| NM_001171937.1:c.115C>T | NP_001165408.1:p.Pro39Ser | |
| NM_025129.4:c.115C>T | NP_079405.2:p.Pro39Ser | |
| NR_033269.1:n.319C>T | ||
| XM_006723399.2:c.115C>T | XP_006723462.1:p.Pro39Ser | |
| XM_011527339.1:c.115C>T | XP_011525641.1:p.Pro39Ser | |
| XM_011527340.1:c.-36C>T | XP_011525642.1:n.-36C>T | |
| XM_011527341.1:c.-36C>T | XP_011525643.1:n.-36C>T | |
| XM_011527342.1:c.-225C>T | XP_011525644.1:n.-225C>T | |
| XM_011527343.1:c.115C>T | XP_011525645.1:p.Pro39Ser | |
| XM_011527344.1:c.115C>T | XP_011525646.1:p.Pro39Ser | |
| XM_011527345.1:c.-163C>T | XP_011525647.1:n.-163C>T | |
| XM_011527346.1:c.-68+263C>T | XP_011525648.1:n.-68+263C>T | |
| XM_011527347.1:c.-163C>T | XP_011525649.1:n.-163C>T | |
| XR_935862.1:n.297C>T | ||
| XR_935863.1:n.297C>T | ||
| NM_001352262.1:c.115C>T | NP_001339191.1:p.Pro39Ser | |
| NM_001363663.1:c.-36C>T | NP_001350592.1:n.-36C>T | |
| XM_006723399.3:c.115C>T | XP_006723462.1:p.Pro39Ser | |
| XM_011527341.2:c.-36C>T | XP_011525643.1:n.-36C>T | |
| XM_011527342.2:c.-225C>T | XP_011525644.1:n.-225C>T | |
| XM_017027320.1:c.115C>T | XP_016882809.1:p.Pro39Ser | |
| XM_017027321.1:c.-68+263C>T | XP_016882810.1:n.-68+263C>T | |
| XM_017027322.2:c.-36C>T | XP_016882811.1:n.-36C>T | |
| XM_017027323.1:c.115C>T | XP_016882812.1:p.Pro39Ser | |
| XM_024451729.1:c.-225C>T | XP_024307497.1:n.-225C>T | |
| XM_024451730.1:c.-225C>T | XP_024307498.1:n.-225C>T | |
| XR_001753764.1:n.297C>T | ||
| XR_001753765.1:n.297C>T | ||
| XR_002958363.1:n.297C>T | ||
| XR_002958364.1:n.297C>T | ||
| XR_002958365.1:n.297C>T | ||
| NM_001171937.2:c.115C>T | NP_001165408.1:p.Pro39Ser | |
| NM_001352262.2:c.115C>T | NP_001339191.1:p.Pro39Ser | |
| NM_025129.5:c.115C>T MANE Select | NP_079405.2:p.Pro39Ser | |
| NR_033269.2:n.301C>T |