Linked Data
dbSNP Id:
rs746882435
ExAC:
15:75047238 G / A
gnomAD v2:
15-75047238-G-A
gnomAD v4:
15-74754897-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754897G>A , CM000677.2:g.74754897G>A | GRCh38 |
| NC_000015.9:g.75047238G>A , CM000677.1:g.75047238G>A | GRCh37 |
| NC_000015.8:g.72834291G>A | NCBI36 |
| NG_008431.1:g.37356G>A | |
| NG_008431.2:g.37356G>A | |
| NG_061543.1:g.11053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1360G>A MANE Select | ENSP00000342007.4:p.Gly454Ser | |
| ENST00000343932.4:c.1360G>A | ENSP00000342007.4:p.Gly454Ser | |
| NM_000761.4:c.1360G>A | NP_000752.2:p.Gly454Ser | |
| NM_000761.5:c.1360G>A MANE Select | NP_000752.2:p.Gly454Ser |