Linked Data
ClinVar Variation Id:
1286626
ClinVar RCV Id:
RCV001710408
dbSNP Id:
rs12300729
ExAC:
12:106895252 A / C
gnomAD v2:
12-106895252-A-C
gnomAD v3:
12-106501474-A-C
gnomAD v4:
12-106501474-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106501474A>C , CM000674.2:g.106501474A>C | GRCh38 |
| NC_000012.11:g.106895252A>C , CM000674.1:g.106895252A>C | GRCh37 |
| NC_000012.10:g.105419382A>C | NCBI36 |
| NG_031837.1:g.148817A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228347.9:c.3098+38A>C MANE Select | ENSP00000228347.4:n.3098+38A>C | |
| ENST00000228347.8:c.3098+38A>C | ENSP00000228347.4:n.3098+38A>C | |
| ENST00000539066.5:c.2924+38A>C | ENSP00000445721.1:n.2924+38A>C | |
| NM_001160708.1:c.2924+38A>C | NP_001154180.1:n.2924+38A>C | |
| NM_018082.5:c.3098+38A>C | NP_060552.4:n.3098+38A>C | |
| NR_040246.1:n.326-1292T>G | ||
| NM_018082.6:c.3098+38A>C MANE Select | NP_060552.4:n.3098+38A>C | |
| NM_001160708.2:c.2924+38A>C | NP_001154180.1:n.2924+38A>C |