Linked Data
ClinVar Variation Id:
1120832
ClinVar RCV Id:
RCV001450909
dbSNP Id:
rs777000077
gnomAD v2:
10-73500721-C-T
gnomAD v3:
10-71740964-C-T
gnomAD v4:
10-71740964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740964C>T , CM000672.2:g.71740964C>T | GRCh38 |
| NC_000010.10:g.73500721C>T , CM000672.1:g.73500721C>T | GRCh37 |
| NC_000010.9:g.73170727C>T | NCBI36 |
| NG_008835.1:g.349018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4617+14C>T MANE Select | ENSP00000224721.9:n.4617+14C>T | |
| ENST00000224721.10:c.4632+14C>T | ENSP00000224721.8:n.4632+14C>T | |
| ENST00000398792.3:n.1306+14C>T | ||
| ENST00000622827.4:c.4617+14C>T | ENSP00000483211.1:n.4617+14C>T | |
| NM_022124.5:c.4617+14C>T | NP_071407.4:n.4617+14C>T | |
| XM_006717940.2:c.4812+14C>T | XP_006718003.1:n.4812+14C>T | |
| XM_006717942.2:c.4746+14C>T | XP_006718005.1:n.4746+14C>T | |
| XM_011540039.1:c.4809+14C>T | XP_011538341.1:n.4809+14C>T | |
| XM_011540040.1:c.4806+14C>T | XP_011538342.1:n.4806+14C>T | |
| XM_011540041.1:c.4752+14C>T | XP_011538343.1:n.4752+14C>T | |
| XM_011540042.1:c.4812+14C>T | XP_011538344.1:n.4812+14C>T | |
| XM_011540043.1:c.4812+14C>T | XP_011538345.1:n.4812+14C>T | |
| XM_011540044.1:c.4677+14C>T | XP_011538346.1:n.4677+14C>T | |
| XM_011540045.1:c.4812+14C>T | XP_011538347.1:n.4812+14C>T | |
| XM_011540046.1:c.4272+14C>T | XP_011538348.1:n.4272+14C>T | |
| XM_011540047.1:c.3630+14C>T | XP_011538349.1:n.3630+14C>T | |
| XM_011540048.1:c.4812+14C>T | XP_011538350.1:n.4812+14C>T | |
| XM_011540049.1:c.4812+14C>T | XP_011538351.1:n.4812+14C>T | |
| XM_011540050.1:c.4812+14C>T | XP_011538352.1:n.4812+14C>T | |
| XM_011540051.1:c.4812+14C>T | XP_011538353.1:n.4812+14C>T | |
| XM_011540052.1:c.1140+14C>T | XP_011538354.1:n.1140+14C>T | |
| XM_011540053.1:c.4812+14C>T | XP_011538355.1:n.4812+14C>T | |
| XR_945796.1:n.5055+14C>T | ||
| NM_022124.6:c.4617+14C>T MANE Select | NP_071407.4:n.4617+14C>T |