Linked Data
dbSNP Id:
rs1178979
gnomAD v2:
7-72856430-T-C
gnomAD v3:
7-73442100-T-C
gnomAD v4:
7-73442100-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73442100T>C , CM000669.2:g.73442100T>C | GRCh38 |
| NC_000007.13:g.72856430T>C , CM000669.1:g.72856430T>C | GRCh37 |
| NC_000007.12:g.72494366T>C | NCBI36 |
| NG_027679.1:g.85186A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339594.9:c.*15+81A>G MANE Select | ENSP00000342434.4:n.*15+81A>G | |
| ENST00000339594.8:c.*15+81A>G | ENSP00000342434.4:n.*15+81A>G | |
| ENST00000404251.1:c.*96A>G | ENSP00000385442.1:n.*96A>G | |
| NM_032408.3:c.*15+81A>G | NP_115784.1:n.*15+81A>G | |
| XM_017012773.2:c.*96A>G | XP_016868262.1:n.*96A>G | |
| NM_032408.4:c.*15+81A>G MANE Select | NP_115784.1:n.*15+81A>G | |
| NM_001370402.1:c.*96A>G | NP_001357331.1:n.*96A>G |