Linked Data
dbSNP Id:
rs10904850
gnomAD v2:
10-16997707-G-A
gnomAD v3:
10-16955708-G-A
gnomAD v4:
10-16955708-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16955708G>A , CM000672.2:g.16955708G>A | GRCh38 |
| NC_000010.10:g.16997707G>A , CM000672.1:g.16997707G>A | GRCh37 |
| NC_000010.9:g.17037713G>A | NCBI36 |
| NG_008967.1:g.179110C>T , LRG_540:g.179110C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.4696-1160C>T MANE Select | ENSP00000367064.4:n.4696-1160C>T | |
| ENST00000377833.8:c.4696-1160C>T | ENSP00000367064.4:n.4696-1160C>T | |
| NM_001081.3:c.4696-1160C>T , LRG_540t1:c.4696-1160C>T | NP_001072.2:n.4696-1160C>T | |
| XM_011519708.1:c.4696-1160C>T | XP_011518010.1:n.4696-1160C>T | |
| XM_011519709.1:c.682-1160C>T | XP_011518011.1:n.682-1160C>T | |
| XM_011519710.1:c.658-1160C>T | XP_011518012.1:n.658-1160C>T | |
| XM_011519711.1:c.538-1160C>T | XP_011518013.1:n.538-1160C>T | |
| XM_011519708.2:c.4696-1160C>T | XP_011518010.1:n.4696-1160C>T | |
| XM_011519709.2:c.682-1160C>T | XP_011518011.1:n.682-1160C>T | |
| XM_011519710.2:c.658-1160C>T | XP_011518012.1:n.658-1160C>T | |
| XM_011519711.3:c.538-1160C>T | XP_011518013.1:n.538-1160C>T | |
| NM_001081.4:c.4696-1160C>T MANE Select | NP_001072.2:n.4696-1160C>T |