Linked Data
dbSNP Id:
rs537359464
ExAC:
9:123724916 C / A
gnomAD v2:
9-123724916-C-A
gnomAD v3:
9-120962638-C-A
gnomAD v4:
9-120962638-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962638C>A , CM000671.2:g.120962638C>A | GRCh38 |
| NC_000009.11:g.123724916C>A , CM000671.1:g.123724916C>A | GRCh37 |
| NC_000009.10:g.122764737C>A | NCBI36 |
| NG_007364.1:g.92639G>T , LRG_28:g.92639G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1538+33G>T | ||
| ENST00000696279.1:c.4824+33G>T | ||
| ENST00000696280.1:n.4593+33G>T | ||
| ENST00000696281.1:c.4522+33G>T | ENSP00000512521.1:n.4522+33G>T | |
| ENST00000697921.1:n.3382+33G>T | ||
| ENST00000697922.1:c.*4494+33G>T | ENSP00000513478.1:n.*4494+33G>T | |
| ENST00000697923.1:n.4949+33G>T | ||
| ENST00000223642.3:c.4504+33G>T MANE Select | ENSP00000223642.1:n.4504+33G>T | |
| ENST00000223642.2:c.4504+33G>T | ENSP00000223642.1:n.4504+33G>T | |
| ENST00000480188.1:n.37+33G>T | ||
| NM_001735.2:c.4504+33G>T , LRG_28t1:c.4504+33G>T | NP_001726.2:n.4504+33G>T | |
| XM_011518980.1:c.4519+33G>T | XP_011517282.1:n.4519+33G>T | |
| NM_001317163.1:c.4522+33G>T | NP_001304092.1:n.4522+33G>T | |
| NM_001317163.2:c.4522+33G>T | NP_001304092.1:n.4522+33G>T | |
| NM_001735.3:c.4504+33G>T MANE Select | NP_001726.2:n.4504+33G>T |