Linked Data
ClinVar Variation Id:
370393
dbSNP Id:
rs146095590
gnomAD v2:
6-74320122-C-T
gnomAD v4:
6-73610399-C-T
COSMIC:
COSM451782
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73610399C>T , CM000668.2:g.73610399C>T | GRCh38 |
| NC_000006.11:g.74320122C>T , CM000668.1:g.74320122C>T | GRCh37 |
| NC_000006.10:g.74376843C>T | NCBI36 |
| NG_008272.1:g.48616G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1259+1G>A MANE Select | ENSP00000348019.5:n.1259+1G>A | |
| ENST00000355773.5:c.1259+1G>A | ENSP00000348019.5:n.1259+1G>A | |
| NM_012434.4:c.1259+1G>A | NP_036566.1:n.1259+1G>A | |
| XM_005248710.2:c.1208+1G>A | XP_005248767.1:n.1208+1G>A | |
| XM_005248711.1:c.1061+1G>A | XP_005248768.1:n.1061+1G>A | |
| XM_011535750.1:c.1111+4916G>A | XP_011534052.1:n.1111+4916G>A | |
| NM_012434.5:c.1259+1G>A MANE Select | NP_036566.1:n.1259+1G>A | |
| NM_001382629.1:c.1028+1G>A | NP_001369558.1:n.1028+1G>A | |
| NM_001382630.1:c.1259+1G>A | NP_001369559.1:n.1259+1G>A | |
| NM_001382631.1:c.1280+1G>A | NP_001369560.1:n.1280+1G>A | |
| NM_001382632.1:c.1172+1G>A | NP_001369561.1:n.1172+1G>A | |
| NM_001382633.1:c.1259+1G>A | NP_001369562.1:n.1259+1G>A | |
| NM_001382634.1:c.1100+1G>A | NP_001369563.1:n.1100+1G>A | |
| NM_001382635.1:c.1256+1G>A | NP_001369564.1:n.1256+1G>A | |
| NM_001382636.1:c.941+1G>A | NP_001369565.1:n.941+1G>A |