Linked Data
ClinVar Variation Id:
335254
ClinVar RCV Id:
RCV000288511
RCV000352807
RCV000401116
RCV000502740
RCV001419740
RCV001582979
RCV002338931
RCV001848680
dbSNP Id:
rs527977882
ExAC:
2:241658573 C / T
gnomAD v2:
2-241658573-C-T
gnomAD v3:
2-240719156-C-T
gnomAD v4:
2-240719156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240719156C>T , CM000664.2:g.240719156C>T | GRCh38 |
| NC_000002.11:g.241658573C>T , CM000664.1:g.241658573C>T | GRCh37 |
| NC_000002.10:g.241307246C>T | NCBI36 |
| NG_029724.1:g.106052G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.4785G>A | ENSP00000322791.8:p.Pro1595= | |
| ENST00000404283.9:c.5088G>A | ENSP00000384231.5:p.Pro1696= | |
| ENST00000431776.6:c.1884G>A | ENSP00000414613.2:p.Pro628= | |
| ENST00000492812.6:n.3647G>A | ||
| ENST00000498729.9:c.5064G>A MANE Select | ENSP00000438388.1:p.Pro1688= | |
| ENST00000647731.1:c.4788G>A | ENSP00000498099.1:p.Pro1596= | |
| ENST00000647885.1:c.4875G>A | ENSP00000497739.1:p.Pro1625= | |
| ENST00000648047.1:c.4023G>A | ENSP00000497935.1:p.Pro1341= | |
| ENST00000648129.1:c.5037G>A | ENSP00000497293.1:p.Pro1679= | |
| ENST00000648364.1:c.4788G>A | ENSP00000498196.1:p.Pro1596= | |
| ENST00000648680.1:c.4815G>A | ENSP00000497586.1:p.Pro1605= | |
| ENST00000649096.1:c.4761G>A | ENSP00000497030.1:p.Pro1587= | |
| ENST00000649190.1:n.4058G>A | ||
| ENST00000649306.1:c.4863G>A | ENSP00000497678.1:p.Pro1621= | |
| ENST00000650053.1:c.4761G>A | ENSP00000497824.1:p.Pro1587= | |
| ENST00000650130.1:c.5037G>A | ENSP00000498082.1:p.Pro1679= | |
| ENST00000650430.1:n.4136G>A | ||
| ENST00000320389.11:c.4761G>A | ENSP00000322791.7:p.Pro1587= | |
| ENST00000460788.5:n.1621G>A | ||
| ENST00000488776.1:n.555G>A | ||
| ENST00000492812.5:n.1536G>A | ||
| ENST00000498729.6:c.5064G>A | ENSP00000438388.1:p.Pro1688= | |
| NM_001244008.1:c.5064G>A | NP_001230937.1:p.Pro1688= | |
| NM_004321.6:c.4761G>A | NP_004312.2:p.Pro1587= | |
| XM_005247022.1:c.5091G>A | XP_005247079.1:p.Pro1697= | |
| XM_005247023.1:c.5088G>A | XP_005247080.1:p.Pro1696= | |
| XM_005247024.1:c.5064G>A | XP_005247081.1:p.Pro1688= | |
| XM_005247026.1:c.4788G>A | XP_005247083.1:p.Pro1596= | |
| XM_005247027.1:c.4785G>A | XP_005247084.1:p.Pro1595= | |
| XM_005247028.1:c.4761G>A | XP_005247085.1:p.Pro1587= | |
| XM_006712605.1:c.5037G>A | XP_006712668.1:p.Pro1679= | |
| XM_011511364.1:c.5091G>A | XP_011509666.1:p.Pro1697= | |
| XM_011511365.1:c.4815G>A | XP_011509667.1:p.Pro1605= | |
| XM_011511366.1:c.4086G>A | XP_011509668.1:p.Pro1362= | |
| XM_011511367.1:c.4086G>A | XP_011509669.1:p.Pro1362= | |
| NM_001320705.1:c.4788G>A | NP_001307634.1:p.Pro1596= | |
| NM_001330289.1:c.4815G>A | NP_001317218.1:p.Pro1605= | |
| NM_001330290.1:c.4863G>A | NP_001317219.1:p.Pro1621= | |
| NM_004321.7:c.4761G>A | NP_004312.2:p.Pro1587= | |
| NM_001320705.2:c.4788G>A | NP_001307634.1:p.Pro1596= | |
| NM_001330289.2:c.4815G>A | NP_001317218.1:p.Pro1605= | |
| NM_001330290.2:c.4863G>A | NP_001317219.1:p.Pro1621= | |
| NM_001244008.2:c.5064G>A MANE Select | NP_001230937.1:p.Pro1688= | |
| NM_001379631.1:c.5139G>A | NP_001366560.1:p.Pro1713= | |
| NM_001379632.1:c.5040G>A | NP_001366561.1:p.Pro1680= | |
| NM_001379633.1:c.5037G>A | NP_001366562.1:p.Pro1679= | |
| NM_001379634.1:c.4890G>A | NP_001366563.1:p.Pro1630= | |
| NM_001379635.1:c.4887G>A | NP_001366564.1:p.Pro1629= | |
| NM_001379636.1:c.4875G>A | NP_001366565.1:p.Pro1625= | |
| NM_001379637.1:c.4836G>A | NP_001366566.1:p.Pro1612= | |
| NM_001379638.1:c.4812G>A | NP_001366567.1:p.Pro1604= | |
| NM_001379639.1:c.4785G>A | NP_001366568.1:p.Pro1595= | |
| NM_001379640.1:c.4758G>A | NP_001366569.1:p.Pro1586= | |
| NM_001379641.1:c.4761G>A | NP_001366570.1:p.Pro1587= | |
| NM_001379642.1:c.5064G>A | NP_001366571.1:p.Pro1688= | |
| NM_001379645.1:c.5037G>A | NP_001366574.1:p.Pro1679= | |
| NM_001379646.1:c.4887G>A | NP_001366575.1:p.Pro1629= | |
| NM_001379648.1:c.4863G>A | NP_001366577.1:p.Pro1621= | |
| NM_001379649.1:c.4788G>A | NP_001366578.1:p.Pro1596= | |
| NM_001379650.1:c.4761G>A | NP_001366579.1:p.Pro1587= | |
| NM_001379651.1:c.4761G>A | NP_001366580.1:p.Pro1587= | |
| NM_001379653.1:c.4761G>A | NP_001366582.1:p.Pro1587= | |
| NM_004321.8:c.4761G>A | NP_004312.2:p.Pro1587= |