Linked Data
ClinVar Variation Id:
46017
dbSNP Id:
rs74144963
ExAC:
10:73199667 C / T
gnomAD v2:
10-73199667-C-T
gnomAD v3:
10-71439910-C-T
gnomAD v4:
10-71439910-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71439910C>T , CM000672.2:g.71439910C>T | GRCh38 |
| NC_000010.10:g.73199667C>T , CM000672.1:g.73199667C>T | GRCh37 |
| NC_000010.9:g.72869673C>T | NCBI36 |
| NG_008835.1:g.47964C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.67+12C>T MANE Select | ENSP00000224721.9:n.67+12C>T | |
| ENST00000398809.9:c.67+12C>T | ENSP00000381789.5:n.67+12C>T | |
| ENST00000442677.4:c.67+12C>T | ENSP00000388894.3:n.67+12C>T | |
| ENST00000644511.1:c.130+42592C>T | ENSP00000495691.1:n.130+42592C>T | |
| ENST00000224721.10:c.67+12C>T | ENSP00000224721.8:n.67+12C>T | |
| ENST00000299366.11:c.67+12C>T | ENSP00000299366.8:n.67+12C>T | |
| ENST00000398809.8:c.67+12C>T | ENSP00000381789.5:n.67+12C>T | |
| ENST00000398842.7:c.-33+42592C>T | ENSP00000381822.4:n.-33+42592C>T | |
| ENST00000461841.7:c.67+12C>T | ENSP00000473454.2:n.67+12C>T | |
| ENST00000616684.4:c.67+12C>T | ENSP00000482036.2:n.67+12C>T | |
| ENST00000622827.4:c.67+12C>T | ENSP00000483211.1:n.67+12C>T | |
| NM_001171930.1:c.67+12C>T | NP_001165401.1:n.67+12C>T | |
| NM_001171931.1:c.67+12C>T | NP_001165402.1:n.67+12C>T | |
| NM_001171932.1:c.67+12C>T | NP_001165403.1:n.67+12C>T | |
| NM_022124.5:c.67+12C>T | NP_071407.4:n.67+12C>T | |
| NM_052836.3:c.67+12C>T | NP_443068.1:n.67+12C>T | |
| XM_006717940.2:c.202+12C>T | XP_006718003.1:n.202+12C>T | |
| XM_006717942.2:c.202+12C>T | XP_006718005.1:n.202+12C>T | |
| XM_011540039.1:c.202+12C>T | XP_011538341.1:n.202+12C>T | |
| XM_011540040.1:c.202+12C>T | XP_011538342.1:n.202+12C>T | |
| XM_011540041.1:c.202+12C>T | XP_011538343.1:n.202+12C>T | |
| XM_011540042.1:c.202+12C>T | XP_011538344.1:n.202+12C>T | |
| XM_011540043.1:c.202+12C>T | XP_011538345.1:n.202+12C>T | |
| XM_011540044.1:c.67+12C>T | XP_011538346.1:n.67+12C>T | |
| XM_011540045.1:c.202+12C>T | XP_011538347.1:n.202+12C>T | |
| XM_011540048.1:c.202+12C>T | XP_011538350.1:n.202+12C>T | |
| XM_011540049.1:c.202+12C>T | XP_011538351.1:n.202+12C>T | |
| XM_011540050.1:c.202+12C>T | XP_011538352.1:n.202+12C>T | |
| XM_011540051.1:c.202+12C>T | XP_011538353.1:n.202+12C>T | |
| XM_011540053.1:c.202+12C>T | XP_011538355.1:n.202+12C>T | |
| XM_011540054.1:c.202+12C>T | XP_011538356.1:n.202+12C>T | |
| XR_945796.1:n.445+12C>T | ||
| NM_001171930.2:c.67+12C>T | NP_001165401.1:n.67+12C>T | |
| NM_001171931.2:c.67+12C>T | NP_001165402.1:n.67+12C>T | |
| NM_022124.6:c.67+12C>T MANE Select | NP_071407.4:n.67+12C>T | |
| NM_052836.4:c.67+12C>T | NP_443068.1:n.67+12C>T | |
| NM_001171932.2:c.67+12C>T | NP_001165403.1:n.67+12C>T |