Linked Data
dbSNP Id:
rs10058728
gnomAD v2:
5-148904092-A-T
gnomAD v3:
5-149524529-A-T
gnomAD v4:
5-149524529-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149524529A>T , CM000667.2:g.149524529A>T | GRCh38 |
| NC_000005.9:g.148904092A>T , CM000667.1:g.148904092A>T | GRCh37 |
| NC_000005.8:g.148884285A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261798.10:c.357+516T>A | ENSP00000261798.6:n.357+516T>A | |
| ENST00000377843.8:c.357+516T>A MANE Select | ENSP00000367074.2:n.357+516T>A | |
| ENST00000515768.6:c.357+516T>A | ENSP00000421689.2:n.357+516T>A | |
| ENST00000606719.6:c.357+516T>A | ENSP00000475319.2:n.357+516T>A | |
| ENST00000657001.1:c.357+516T>A | ENSP00000499757.1:n.357+516T>A | |
| ENST00000657462.1:c.231-4141T>A | ENSP00000499532.1:n.231-4141T>A | |
| ENST00000657706.1:c.591+516T>A | ENSP00000499284.1:n.591+516T>A | |
| ENST00000661952.1:c.231-4141T>A | ENSP00000499647.1:n.231-4141T>A | |
| ENST00000662268.1:n.326+516T>A | ||
| ENST00000670598.1:c.349-4141T>A | ENSP00000499782.1:n.349-4141T>A | |
| ENST00000261798.9:c.357+516T>A | ENSP00000261798.5:n.357+516T>A | |
| ENST00000377843.6:c.357+516T>A | ENSP00000367074.2:n.357+516T>A | |
| ENST00000504676.5:c.90+516T>A | ENSP00000426747.1:n.90+516T>A | |
| ENST00000515435.5:c.90+516T>A | ENSP00000427031.1:n.90+516T>A | |
| ENST00000515768.5:c.357+516T>A | ENSP00000421689.1:n.357+516T>A | |
| NM_001025105.2:c.357+516T>A | NP_001020276.1:n.357+516T>A | |
| NM_001271741.1:c.357+516T>A | NP_001258670.1:n.357+516T>A | |
| NM_001271742.1:c.90+516T>A | NP_001258671.1:n.90+516T>A | |
| NM_001892.5:c.357+516T>A | NP_001883.4:n.357+516T>A | |
| NM_001025105.3:c.357+516T>A | NP_001020276.1:n.357+516T>A | |
| NM_001271741.2:c.357+516T>A | NP_001258670.1:n.357+516T>A | |
| NM_001271742.2:c.90+516T>A | NP_001258671.1:n.90+516T>A | |
| NM_001892.6:c.357+516T>A MANE Select | NP_001883.4:n.357+516T>A |