Linked Data
dbSNP Id:
rs11765954
gnomAD v2:
7-92280695-T-C
gnomAD v3:
7-92651381-T-C
gnomAD v4:
7-92651381-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92651381T>C , CM000669.2:g.92651381T>C | GRCh38 |
| NC_000007.13:g.92280695T>C , CM000669.1:g.92280695T>C | GRCh37 |
| NC_000007.12:g.92118631T>C | NCBI36 |
| NG_015888.1:g.190247A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424848.3:c.647+20045A>G MANE Select | ENSP00000397087.3:n.647+20045A>G | |
| ENST00000265734.8:c.647+20045A>G | ENSP00000265734.4:n.647+20045A>G | |
| ENST00000424848.2:c.647+20045A>G | ENSP00000397087.2:n.647+20045A>G | |
| NM_001145306.1:c.647+20045A>G | NP_001138778.1:n.647+20045A>G | |
| NM_001259.6:c.647+20045A>G | NP_001250.1:n.647+20045A>G | |
| XM_006715835.1:c.647+20045A>G | XP_006715898.1:n.647+20045A>G | |
| XM_011515731.1:c.647+20045A>G | XP_011514033.1:n.647+20045A>G | |
| XR_927745.1:n.241T>C | ||
| NM_001259.7:c.647+20045A>G | NP_001250.1:n.647+20045A>G | |
| XM_006715835.2:c.647+20045A>G | XP_006715898.1:n.647+20045A>G | |
| NM_001145306.2:c.647+20045A>G MANE Select | NP_001138778.1:n.647+20045A>G | |
| NM_001259.8:c.647+20045A>G | NP_001250.1:n.647+20045A>G |