Linked Data
dbSNP Id:
rs2282978
gnomAD v2:
7-92264410-T-C
gnomAD v3:
7-92635096-T-C
gnomAD v4:
7-92635096-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92635096T>C , CM000669.2:g.92635096T>C | GRCh38 |
| NC_000007.13:g.92264410T>C , CM000669.1:g.92264410T>C | GRCh37 |
| NC_000007.12:g.92102346T>C | NCBI36 |
| NG_015888.1:g.206532A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424848.3:c.648-12010A>G MANE Select | ENSP00000397087.3:n.648-12010A>G | |
| ENST00000265734.8:c.648-12010A>G | ENSP00000265734.4:n.648-12010A>G | |
| ENST00000424848.2:c.648-12010A>G | ENSP00000397087.2:n.648-12010A>G | |
| NM_001145306.1:c.648-12010A>G | NP_001138778.1:n.648-12010A>G | |
| NM_001259.6:c.648-12010A>G | NP_001250.1:n.648-12010A>G | |
| XM_006715835.1:c.648-12010A>G | XP_006715898.1:n.648-12010A>G | |
| XM_011515731.1:c.648-12010A>G | XP_011514033.1:n.648-12010A>G | |
| XR_927748.1:n.465-6863T>C | ||
| NM_001259.7:c.648-12010A>G | NP_001250.1:n.648-12010A>G | |
| XM_006715835.2:c.648-12010A>G | XP_006715898.1:n.648-12010A>G | |
| XR_002956577.1:n.7080A>G | ||
| XR_002956578.1:n.4728A>G | ||
| NM_001145306.2:c.648-12010A>G MANE Select | NP_001138778.1:n.648-12010A>G | |
| NM_001259.8:c.648-12010A>G | NP_001250.1:n.648-12010A>G |