Linked Data
dbSNP Id:
rs1040224059
gnomAD v3:
7-29922862-A-T
gnomAD v4:
7-29922862-A-T
MyVariant Identifiers:
chr7:g.29922862A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29922862A>T , CM000669.2:g.29922862A>T | GRCh38 |
| NC_000007.13:g.29962478A>T , CM000669.1:g.29962478A>T | GRCh37 |
| NC_000007.12:g.29929003A>T | NCBI36 |
| NG_047114.1:g.72428T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242059.10:c.*1095T>A MANE Select | ENSP00000242059.5:n.*1095T>A | |
| ENST00000242059.9:c.*1095T>A | ENSP00000242059.5:n.*1095T>A | |
| ENST00000426154.5:c.*1095T>A | ENSP00000409068.1:n.*1095T>A | |
| NM_001145513.1:c.*1095T>A | NP_001138985.1:n.*1095T>A | |
| NM_001145514.1:c.*1095T>A | NP_001138986.1:n.*1095T>A | |
| NM_001145515.1:c.*1095T>A | NP_001138987.1:n.*1095T>A | |
| NM_014766.4:c.*1095T>A | NP_055581.3:n.*1095T>A | |
| XM_005249918.3:c.*1095T>A | XP_005249975.1:n.*1095T>A | |
| XM_011515653.1:c.*1095T>A | XP_011513955.1:n.*1095T>A | |
| XM_024447007.1:c.*1095T>A | XP_024302775.1:n.*1095T>A | |
| NM_014766.5:c.*1095T>A MANE Select | NP_055581.3:n.*1095T>A | |
| NM_001145515.2:c.*1095T>A | NP_001138987.1:n.*1095T>A |