Linked Data
ClinVar Variation Id:
373391
ClinVar RCV Id:
RCV000414263
dbSNP Id:
rs1057518391
gnomAD v2:
11-102818781-T-G
gnomAD v4:
11-102948052-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102948052T>G , CM000673.2:g.102948052T>G | GRCh38 |
| NC_000011.9:g.102818781T>G , CM000673.1:g.102818781T>G | GRCh37 |
| NC_000011.8:g.102323991T>G | NCBI36 |
| NG_021404.1:g.12683A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260302.8:c.1052-2A>C MANE Select | ENSP00000260302.3:n.1052-2A>C | |
| ENST00000260302.7:c.1052-2A>C | ENSP00000260302.3:n.1052-2A>C | |
| ENST00000340273.4:c.1052-2A>C | ENSP00000339672.4:n.1052-2A>C | |
| ENST00000615555.4:c.1052-2A>C | ENSP00000482883.1:n.1052-2A>C | |
| NM_002427.3:c.1052-2A>C | NP_002418.1:n.1052-2A>C | |
| NM_002427.4:c.1052-2A>C MANE Select | NP_002418.1:n.1052-2A>C |