Linked Data
ClinVar Variation Id:
427021
ClinVar RCV Id:
RCV000489914
dbSNP Id:
rs587780463
gnomAD v4:
10-71323055-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71323055G>C , CM000672.2:g.71323055G>C | GRCh38 |
| NC_000010.10:g.73082812G>C , CM000672.1:g.73082812G>C | GRCh37 |
| NC_000010.9:g.72752818G>C | NCBI36 |
| NG_017066.1:g.8803G>C | |
| NG_017066.2:g.8797G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.746+1G>C | ||
| ENST00000373189.6:c.300+1G>C MANE Select | ENSP00000362285.5:n.300+1G>C | |
| ENST00000479577.2:c.66+1G>C | ENSP00000493995.1:n.66+1G>C | |
| ENST00000642198.1:c.66+1G>C | ENSP00000494827.1:n.66+1G>C | |
| ENST00000642772.1:c.300+1G>C | ENSP00000495041.1:n.300+1G>C | |
| ENST00000643042.1:c.231+1G>C | ENSP00000496674.1:n.231+1G>C | |
| ENST00000643619.1:c.66+1G>C | ENSP00000494378.1:n.66+1G>C | |
| ENST00000643752.1:c.300+1G>C | ENSP00000495000.1:n.300+1G>C | |
| ENST00000644088.1:c.300+1G>C | ENSP00000494066.1:n.300+1G>C | |
| ENST00000644591.1:c.300+1G>C | ENSP00000496664.1:n.300+1G>C | |
| ENST00000644895.1:c.300+1G>C | ENSP00000493872.1:n.300+1G>C | |
| ENST00000645345.1:c.300+1G>C | ENSP00000495859.1:n.300+1G>C | |
| ENST00000647524.1:c.300+1G>C | ENSP00000495077.1:n.300+1G>C | |
| ENST00000373189.5:c.300+1G>C | ENSP00000362285.5:n.300+1G>C | |
| NM_001174098.1:c.300+1G>C | NP_001167569.1:n.300+1G>C | |
| NM_018344.5:c.300+1G>C | NP_060814.4:n.300+1G>C | |
| NR_033413.1:n.357+1G>C | ||
| NR_033414.1:n.357+1G>C | ||
| XM_006717910.2:c.66+1G>C | XP_006717973.1:n.66+1G>C | |
| NM_001363518.1:c.66+1G>C | NP_001350447.1:n.66+1G>C | |
| XM_017016377.2:c.-56+1G>C | XP_016871866.1:n.-56+1G>C | |
| XM_017016378.2:c.-9+1G>C | XP_016871867.1:n.-9+1G>C | |
| NM_018344.6:c.300+1G>C MANE Select | NP_060814.4:n.300+1G>C | |
| NM_001174098.2:c.300+1G>C | NP_001167569.1:n.300+1G>C | |
| NM_001363518.2:c.66+1G>C | NP_001350447.1:n.66+1G>C | |
| NR_033413.2:n.351+1G>C | ||
| NR_033414.2:n.351+1G>C |