Linked Data
ClinVar Variation Id:
371032
ClinVar RCV Id:
RCV000411919
dbSNP Id:
rs1057516951
gnomAD v4:
6-73600350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600350C>T , CM000668.2:g.73600350C>T | GRCh38 |
| NC_000006.11:g.74310073C>T , CM000668.1:g.74310073C>T | GRCh37 |
| NC_000006.10:g.74366794C>T | NCBI36 |
| NG_008272.1:g.58665G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1350+1G>A MANE Select | ENSP00000348019.5:n.1350+1G>A | |
| ENST00000355773.5:c.1350+1G>A | ENSP00000348019.5:n.1350+1G>A | |
| NM_012434.4:c.1350+1G>A | NP_036566.1:n.1350+1G>A | |
| XM_005248710.2:c.1299+1G>A | XP_005248767.1:n.1299+1G>A | |
| XM_005248711.1:c.1152+1G>A | XP_005248768.1:n.1152+1G>A | |
| XM_011535750.1:c.*8+1G>A | XP_011534052.1:n.*8+1G>A | |
| NM_012434.5:c.1350+1G>A MANE Select | NP_036566.1:n.1350+1G>A | |
| NM_001382629.1:c.1119+1G>A | NP_001369558.1:n.1119+1G>A | |
| NM_001382630.1:c.1260-5136G>A | NP_001369559.1:n.1260-5136G>A | |
| NM_001382631.1:c.1371+1G>A | NP_001369560.1:n.1371+1G>A | |
| NM_001382632.1:c.1263+1G>A | NP_001369561.1:n.1263+1G>A | |
| NM_001382633.1:c.1350+1G>A | NP_001369562.1:n.1350+1G>A | |
| NM_001382634.1:c.1191+1G>A | NP_001369563.1:n.1191+1G>A | |
| NM_001382635.1:c.1347+1G>A | NP_001369564.1:n.1347+1G>A | |
| NM_001382636.1:c.1032+1G>A | NP_001369565.1:n.1032+1G>A |