Linked Data
dbSNP Id:
rs4965814
gnomAD v2:
15-101813917-C-T
gnomAD v3:
15-101273712-C-T
gnomAD v4:
15-101273712-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101273712C>T , CM000677.2:g.101273712C>T | GRCh38 |
| NC_000015.9:g.101813917C>T , CM000677.1:g.101813917C>T | GRCh37 |
| NC_000015.8:g.99631440C>T | NCBI36 |
| NG_013322.1:g.8784G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526049.6:c.484+708G>A MANE Select | ENSP00000433541.1:n.484+708G>A | |
| ENST00000398226.7:c.484+708G>A | ENSP00000381282.3:n.484+708G>A | |
| ENST00000526043.1:n.1777+708G>A | ||
| ENST00000526049.5:c.484+708G>A | ENSP00000433541.1:n.484+708G>A | |
| ENST00000528346.1:c.604+708G>A | ENSP00000434842.1:n.604+708G>A | |
| ENST00000531964.5:c.415+708G>A | ENSP00000433803.1:n.415+708G>A | |
| NM_018445.5:c.484+708G>A | NP_060915.2:n.484+708G>A | |
| NM_203472.2:c.484+708G>A | NP_982298.2:n.484+708G>A | |
| NM_018445.6:c.484+708G>A MANE Select | NP_060915.2:n.484+708G>A | |
| NM_203472.3:c.484+708G>A | NP_982298.2:n.484+708G>A |