Linked Data
dbSNP Id:
rs765688596
ExAC:
17:39768370 C / T
gnomAD v2:
17-39768370-C-T
gnomAD v4:
17-41612118-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612118C>T , CM000679.2:g.41612118C>T | GRCh38 |
| NC_000017.10:g.39768370C>T , CM000679.1:g.39768370C>T | GRCh37 |
| NC_000017.9:g.37021896C>T | NCBI36 |
| NG_008301.1:g.5710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.531+40G>A MANE Select | ENSP00000301653.3:n.531+40G>A | |
| ENST00000301653.8:c.531+40G>A | ENSP00000301653.3:n.531+40G>A | |
| ENST00000588319.1:n.648G>A | ||
| ENST00000593067.1:c.-184+40G>A | ENSP00000467124.1:n.-184+40G>A | |
| NM_005557.3:c.531+40G>A | NP_005548.2:n.531+40G>A | |
| NM_005557.4:c.531+40G>A MANE Select | NP_005548.2:n.531+40G>A |