Linked Data
dbSNP Id:
rs765071885
ExAC:
21:19653471 G / A
gnomAD v2:
21-19653471-G-A
gnomAD v4:
21-18281154-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281154G>A , CM000683.2:g.18281154G>A | GRCh38 |
| NC_000021.8:g.19653471G>A , CM000683.1:g.19653471G>A | GRCh37 |
| NC_000021.7:g.18575342G>A | NCBI36 |
| NG_012207.1:g.127500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2554C>T MANE Select | ENSP00000284885.3:p.Pro852Ser | |
| ENST00000284885.7:c.2554C>T | ENSP00000284885.3:p.Pro852Ser | |
| NM_002772.2:c.2554C>T | NP_002763.2:p.Pro852Ser | |
| XM_011529654.1:c.2689C>T | XP_011527956.1:p.Pro897Ser | |
| XM_011529655.1:c.2689C>T | XP_011527957.1:p.Pro897Ser | |
| XM_011529656.1:c.2689C>T | XP_011527958.1:p.Pro897Ser | |
| XM_011529657.1:c.2644C>T | XP_011527959.1:p.Pro882Ser | |
| XM_011529658.1:c.2608C>T | XP_011527960.1:p.Pro870Ser | |
| XM_011529659.1:c.2599C>T | XP_011527961.1:p.Pro867Ser | |
| XM_011529654.2:c.2689C>T | XP_011527956.1:p.Pro897Ser | |
| XM_011529656.2:c.2689C>T | XP_011527958.1:p.Pro897Ser | |
| XM_011529657.2:c.2644C>T | XP_011527959.1:p.Pro882Ser | |
| XM_011529658.2:c.2608C>T | XP_011527960.1:p.Pro870Ser | |
| NM_002772.3:c.2554C>T MANE Select | NP_002763.3:p.Pro852Ser |