Linked Data
dbSNP Id:
rs190022215
ExAC:
17:4925759 G / T
gnomAD v2:
17-4925759-G-T
gnomAD v3:
17-5022464-G-T
gnomAD v4:
17-5022464-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022464G>T , CM000679.2:g.5022464G>T | GRCh38 |
| NC_000017.10:g.4925759G>T , CM000679.1:g.4925759G>T | GRCh37 |
| NC_000017.9:g.4866483G>T | NCBI36 |
| NG_034137.1:g.29517G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2383G>T MANE Select | ENSP00000320821.5:p.Ala795Ser | |
| ENST00000320785.9:c.2383G>T | ENSP00000320821.5:p.Ala795Ser | |
| NM_006612.5:c.2383G>T | NP_006603.2:p.Ala795Ser | |
| XM_005256424.1:c.2383G>T | XP_005256481.1:p.Ala795Ser | |
| XM_005256424.2:c.2383G>T | XP_005256481.1:p.Ala795Ser | |
| NM_006612.6:c.2383G>T MANE Select | NP_006603.2:p.Ala795Ser |