Linked Data
dbSNP Id:
rs766313803
ExAC:
17:39739450 A / T
gnomAD v2:
17-39739450-A-T
gnomAD v4:
17-41583198-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583198A>T , CM000679.2:g.41583198A>T | GRCh38 |
| NC_000017.10:g.39739450A>T , CM000679.1:g.39739450A>T | GRCh37 |
| NC_000017.9:g.36992976A>T | NCBI36 |
| NG_008624.1:g.8698T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1274+37T>A MANE Select | ENSP00000167586.6:n.1274+37T>A | |
| ENST00000167586.6:c.1274+37T>A | ENSP00000167586.6:n.1274+37T>A | |
| ENST00000441550.2:n.221+37T>A | ||
| NM_000526.4:c.1274+37T>A | NP_000517.2:n.1274+37T>A | |
| NM_000526.5:c.1274+37T>A MANE Select | NP_000517.3:n.1274+37T>A |