Linked Data
dbSNP Id:
rs141411206
ExAC:
21:19653428 G / T
gnomAD v2:
21-19653428-G-T
gnomAD v3:
21-18281111-G-T
gnomAD v4:
21-18281111-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281111G>T , CM000683.2:g.18281111G>T | GRCh38 |
| NC_000021.8:g.19653428G>T , CM000683.1:g.19653428G>T | GRCh37 |
| NC_000021.7:g.18575299G>T | NCBI36 |
| NG_012207.1:g.127543C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2597C>A MANE Select | ENSP00000284885.3:p.Pro866His | |
| ENST00000284885.7:c.2597C>A | ENSP00000284885.3:p.Pro866His | |
| NM_002772.2:c.2597C>A | NP_002763.2:p.Pro866His | |
| XM_011529654.1:c.2732C>A | XP_011527956.1:p.Pro911His | |
| XM_011529655.1:c.2732C>A | XP_011527957.1:p.Pro911His | |
| XM_011529656.1:c.2732C>A | XP_011527958.1:p.Pro911His | |
| XM_011529657.1:c.2687C>A | XP_011527959.1:p.Pro896His | |
| XM_011529658.1:c.2651C>A | XP_011527960.1:p.Pro884His | |
| XM_011529659.1:c.2642C>A | XP_011527961.1:p.Pro881His | |
| XM_011529654.2:c.2732C>A | XP_011527956.1:p.Pro911His | |
| XM_011529656.2:c.2732C>A | XP_011527958.1:p.Pro911His | |
| XM_011529657.2:c.2687C>A | XP_011527959.1:p.Pro896His | |
| XM_011529658.2:c.2651C>A | XP_011527960.1:p.Pro884His | |
| NM_002772.3:c.2597C>A MANE Select | NP_002763.3:p.Pro866His |