Linked Data
dbSNP Id:
rs536968595
gnomAD v2:
X-119581951-C-A
gnomAD v3:
X-120448096-C-A
gnomAD v4:
X-120448096-C-A
COSMIC:
COSN16056749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120448096C>A , CM000685.2:g.120448096C>A | GRCh38 |
| NC_000023.10:g.119581951C>A , CM000685.1:g.119581951C>A | GRCh37 |
| NC_000023.9:g.119465979C>A | NCBI36 |
| NG_007995.1:g.26254G>T , LRG_749:g.26254G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706600.1:c.557-71G>T | ENSP00000516464.1:n.557-71G>T | |
| ENST00000200639.9:c.557-71G>T MANE Select | ENSP00000200639.4:n.557-71G>T | |
| ENST00000200639.8:c.557-71G>T | ENSP00000200639.4:n.557-71G>T | |
| ENST00000371335.4:c.557-71G>T | ENSP00000360386.4:n.557-71G>T | |
| ENST00000434600.6:c.557-71G>T | ENSP00000408411.2:n.557-71G>T | |
| ENST00000486593.5:c.100-71G>T | ||
| NM_001122606.1:c.557-71G>T , LRG_749t3:c.557-71G>T | NP_001116078.1:n.557-71G>T | |
| NM_002294.2:c.557-71G>T , LRG_749t1:c.557-71G>T | NP_002285.1:n.557-71G>T | |
| NM_013995.2:c.557-71G>T , LRG_749t2:c.557-71G>T | NP_054701.1:n.557-71G>T | |
| NM_002294.3:c.557-71G>T MANE Select | NP_002285.1:n.557-71G>T |