Linked Data
dbSNP Id:
rs6958587
gnomAD v2:
7-29962663-T-C
gnomAD v3:
7-29923047-T-C
gnomAD v4:
7-29923047-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29923047T>C , CM000669.2:g.29923047T>C | GRCh38 |
| NC_000007.13:g.29962663T>C , CM000669.1:g.29962663T>C | GRCh37 |
| NC_000007.12:g.29929188T>C | NCBI36 |
| NG_047114.1:g.72243A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242059.10:c.*910A>G MANE Select | ENSP00000242059.5:n.*910A>G | |
| ENST00000242059.9:c.*910A>G | ENSP00000242059.5:n.*910A>G | |
| ENST00000426154.5:c.*910A>G | ENSP00000409068.1:n.*910A>G | |
| NM_001145513.1:c.*910A>G | NP_001138985.1:n.*910A>G | |
| NM_001145514.1:c.*910A>G | NP_001138986.1:n.*910A>G | |
| NM_001145515.1:c.*910A>G | NP_001138987.1:n.*910A>G | |
| NM_014766.4:c.*910A>G | NP_055581.3:n.*910A>G | |
| XM_005249918.3:c.*910A>G | XP_005249975.1:n.*910A>G | |
| XM_011515653.1:c.*910A>G | XP_011513955.1:n.*910A>G | |
| XM_024447007.1:c.*910A>G | XP_024302775.1:n.*910A>G | |
| NM_014766.5:c.*910A>G MANE Select | NP_055581.3:n.*910A>G | |
| NM_001145515.2:c.*910A>G | NP_001138987.1:n.*910A>G |