Linked Data
dbSNP Id:
rs763246035
ExAC:
15:75047190 A / G
gnomAD v3:
15-74754849-A-G
gnomAD v4:
15-74754849-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754849A>G , CM000677.2:g.74754849A>G | GRCh38 |
| NC_000015.9:g.75047190A>G , CM000677.1:g.75047190A>G | GRCh37 |
| NC_000015.8:g.72834243A>G | NCBI36 |
| NG_008431.1:g.37308A>G | |
| NG_008431.2:g.37308A>G | |
| NG_061543.1:g.11005A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1312A>G MANE Select | ENSP00000342007.4:p.Thr438Ala | |
| ENST00000343932.4:c.1312A>G | ENSP00000342007.4:p.Thr438Ala | |
| NM_000761.4:c.1312A>G | NP_000752.2:p.Thr438Ala | |
| NM_000761.5:c.1312A>G MANE Select | NP_000752.2:p.Thr438Ala |