Linked Data
ClinVar Variation Id:
178308
dbSNP Id:
rs117317626
ExAC:
10:73548684 C / T
gnomAD v2:
10-73548684-C-T
gnomAD v3:
10-71788927-C-T
gnomAD v4:
10-71788927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71788927C>T , CM000672.2:g.71788927C>T | GRCh38 |
| NC_000010.10:g.73548684C>T , CM000672.1:g.73548684C>T | GRCh37 |
| NC_000010.9:g.73218690C>T | NCBI36 |
| NG_008835.1:g.396981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5821-13C>T MANE Select | ENSP00000224721.9:n.5821-13C>T | |
| ENST00000224721.10:c.5836-13C>T | ENSP00000224721.8:n.5836-13C>T | |
| ENST00000622827.4:c.5821-13C>T | ENSP00000483211.1:n.5821-13C>T | |
| NM_022124.5:c.5821-13C>T | NP_071407.4:n.5821-13C>T | |
| XM_006717940.2:c.6016-13C>T | XP_006718003.1:n.6016-13C>T | |
| XM_006717942.2:c.5950-13C>T | XP_006718005.1:n.5950-13C>T | |
| XM_011540039.1:c.6013-13C>T | XP_011538341.1:n.6013-13C>T | |
| XM_011540040.1:c.6010-13C>T | XP_011538342.1:n.6010-13C>T | |
| XM_011540041.1:c.5956-13C>T | XP_011538343.1:n.5956-13C>T | |
| XM_011540042.1:c.6016-13C>T | XP_011538344.1:n.6016-13C>T | |
| XM_011540043.1:c.6016-13C>T | XP_011538345.1:n.6016-13C>T | |
| XM_011540044.1:c.5881-13C>T | XP_011538346.1:n.5881-13C>T | |
| XM_011540045.1:c.6016-13C>T | XP_011538347.1:n.6016-13C>T | |
| XM_011540046.1:c.5476-13C>T | XP_011538348.1:n.5476-13C>T | |
| XM_011540047.1:c.4834-13C>T | XP_011538349.1:n.4834-13C>T | |
| XM_011540048.1:c.6016-13C>T | XP_011538350.1:n.6016-13C>T | |
| XM_011540049.1:c.6016-13C>T | XP_011538351.1:n.6016-13C>T | |
| XM_011540050.1:c.6016-13C>T | XP_011538352.1:n.6016-13C>T | |
| XM_011540051.1:c.6016-13C>T | XP_011538353.1:n.6016-13C>T | |
| XM_011540052.1:c.2344-13C>T | XP_011538354.1:n.2344-13C>T | |
| XM_011540053.1:c.6016-13C>T | XP_011538355.1:n.6016-13C>T | |
| XR_945796.1:n.6259-13C>T | ||
| NM_022124.6:c.5821-13C>T MANE Select | NP_071407.4:n.5821-13C>T |