Linked Data
dbSNP Id:
rs1471159041
gnomAD v2:
15-75042110-G-T
gnomAD v3:
15-74749769-G-T
gnomAD v4:
15-74749769-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749769G>T , CM000677.2:g.74749769G>T | GRCh38 |
| NC_000015.9:g.75042110G>T , CM000677.1:g.75042110G>T | GRCh37 |
| NC_000015.8:g.72829163G>T | NCBI36 |
| NG_008431.1:g.32228G>T | |
| NG_008431.2:g.32228G>T | |
| NG_061543.1:g.5925G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.31G>T MANE Select | ENSP00000342007.4:p.Ala11Ser | |
| ENST00000343932.4:c.31G>T | ENSP00000342007.4:p.Ala11Ser | |
| NM_000761.4:c.31G>T | NP_000752.2:p.Ala11Ser | |
| NM_000761.5:c.31G>T MANE Select | NP_000752.2:p.Ala11Ser |