Linked Data
dbSNP Id:
rs540587927
gnomAD v2:
17-39739453-G-T
gnomAD v3:
17-41583201-G-T
gnomAD v4:
17-41583201-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583201G>T , CM000679.2:g.41583201G>T | GRCh38 |
| NC_000017.10:g.39739453G>T , CM000679.1:g.39739453G>T | GRCh37 |
| NC_000017.9:g.36992979G>T | NCBI36 |
| NG_008624.1:g.8695C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1274+34C>A MANE Select | ENSP00000167586.6:n.1274+34C>A | |
| ENST00000167586.6:c.1274+34C>A | ENSP00000167586.6:n.1274+34C>A | |
| ENST00000441550.2:n.221+34C>A | ||
| NM_000526.4:c.1274+34C>A | NP_000517.2:n.1274+34C>A | |
| NM_000526.5:c.1274+34C>A MANE Select | NP_000517.3:n.1274+34C>A |