Linked Data
ClinVar Variation Id:
4928
ClinVar RCV Id:
RCV000005211
RCV001261012
RCV001106128
RCV001205177
RCV002476931
RCV001831515
RCV003472978
dbSNP Id:
rs121908354
ExAC:
10:73330641 C / T
gnomAD v2:
10-73330641-C-T
gnomAD v3:
10-71570884-C-T
gnomAD v4:
10-71570884-C-T
ERepo:
CA253338/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71570884C>T , CM000672.2:g.71570884C>T | GRCh38 |
| NC_000010.10:g.73330641C>T , CM000672.1:g.73330641C>T | GRCh37 |
| NC_000010.9:g.73000647C>T | NCBI36 |
| NG_008835.1:g.178938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.719C>T MANE Select | ENSP00000224721.9:p.Pro240Leu | |
| ENST00000398809.9:c.719C>T | ENSP00000381789.5:p.Pro240Leu | |
| ENST00000442677.4:c.719C>T | ENSP00000388894.3:p.Pro240Leu | |
| ENST00000466757.8:c.90C>T | ||
| ENST00000643732.1:n.495C>T | ||
| ENST00000646131.1:c.383C>T | ENSP00000495098.1:p.Pro128Leu | |
| ENST00000224721.10:c.734C>T | ENSP00000224721.8:p.Pro245Leu | |
| ENST00000299366.11:c.719C>T | ENSP00000299366.8:p.Pro240Leu | |
| ENST00000398809.8:c.719C>T | ENSP00000381789.5:p.Pro240Leu | |
| ENST00000398842.7:c.470C>T | ENSP00000381822.4:p.Pro157Leu | |
| ENST00000461841.7:c.719C>T | ENSP00000473454.2:p.Pro240Leu | |
| ENST00000466757.7:c.90C>T | ||
| ENST00000616684.4:c.719C>T | ENSP00000482036.2:p.Pro240Leu | |
| ENST00000622827.4:c.719C>T | ENSP00000483211.1:p.Pro240Leu | |
| NM_001171930.1:c.719C>T | NP_001165401.1:p.Pro240Leu | |
| NM_001171931.1:c.719C>T | NP_001165402.1:p.Pro240Leu | |
| NM_001171932.1:c.719C>T | NP_001165403.1:p.Pro240Leu | |
| NM_022124.5:c.719C>T | NP_071407.4:p.Pro240Leu | |
| NM_052836.3:c.719C>T | NP_443068.1:p.Pro240Leu | |
| XM_006717940.2:c.854C>T | XP_006718003.1:p.Pro285Leu | |
| XM_006717942.2:c.854C>T | XP_006718005.1:p.Pro285Leu | |
| XM_011540039.1:c.854C>T | XP_011538341.1:p.Pro285Leu | |
| XM_011540040.1:c.854C>T | XP_011538342.1:p.Pro285Leu | |
| XM_011540041.1:c.854C>T | XP_011538343.1:p.Pro285Leu | |
| XM_011540042.1:c.854C>T | XP_011538344.1:p.Pro285Leu | |
| XM_011540043.1:c.854C>T | XP_011538345.1:p.Pro285Leu | |
| XM_011540044.1:c.719C>T | XP_011538346.1:p.Pro240Leu | |
| XM_011540045.1:c.854C>T | XP_011538347.1:p.Pro285Leu | |
| XM_011540046.1:c.314C>T | XP_011538348.1:p.Pro105Leu | |
| XM_011540048.1:c.854C>T | XP_011538350.1:p.Pro285Leu | |
| XM_011540049.1:c.854C>T | XP_011538351.1:p.Pro285Leu | |
| XM_011540050.1:c.854C>T | XP_011538352.1:p.Pro285Leu | |
| XM_011540051.1:c.854C>T | XP_011538353.1:p.Pro285Leu | |
| XM_011540053.1:c.854C>T | XP_011538355.1:p.Pro285Leu | |
| XM_011540054.1:c.854C>T | XP_011538356.1:p.Pro285Leu | |
| XR_246128.2:n.162-5750G>A | ||
| XR_945796.1:n.1097C>T | ||
| NM_001171930.2:c.719C>T | NP_001165401.1:p.Pro240Leu | |
| NM_001171931.2:c.719C>T | NP_001165402.1:p.Pro240Leu | |
| NM_022124.6:c.719C>T MANE Select | NP_071407.4:p.Pro240Leu | |
| NM_052836.4:c.719C>T | NP_443068.1:p.Pro240Leu | |
| NM_001171932.2:c.719C>T | NP_001165403.1:p.Pro240Leu |