Linked Data
ClinVar Variation Id:
709502
ClinVar RCV Id:
RCV001485634
dbSNP Id:
rs777889637
ExAC:
21:46313367 G / A
gnomAD v2:
21-46313367-G-A
gnomAD v3:
21-44893452-G-A
gnomAD v4:
21-44893452-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44893452G>A , CM000683.2:g.44893452G>A | GRCh38 |
| NC_000021.8:g.46313367G>A , CM000683.1:g.46313367G>A | GRCh37 |
| NC_000021.7:g.45137795G>A | NCBI36 |
| NG_007270.2:g.40387C>T , LRG_76:g.40387C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.1248C>T | ENSP00000303242.6:p.His416= | |
| ENST00000652462.1:c.1176C>T MANE Select | ENSP00000498780.1:p.His392= | |
| ENST00000302347.9:c.1176C>T | ENSP00000303242.5:p.His392= | |
| ENST00000355153.8:c.1176C>T | ENSP00000347279.4:p.His392= | |
| ENST00000397850.6:c.1176C>T | ENSP00000380948.2:p.His392= | |
| ENST00000397852.5:c.1176C>T | ENSP00000380950.1:p.His392= | |
| ENST00000397854.7:c.1005C>T | ENSP00000380952.3:p.His335= | |
| ENST00000397857.5:c.1176C>T | ENSP00000380955.1:p.His392= | |
| ENST00000475170.5:n.576C>T | ||
| ENST00000498666.5:n.2745C>T | ||
| ENST00000523323.5:c.*1003C>T | ENSP00000427732.1:n.*1003C>T | |
| ENST00000610622.4:c.1005C>T | ENSP00000480700.1:p.His335= | |
| NM_000211.4:c.1176C>T | NP_000202.3:p.His392= | |
| NM_001127491.2:c.1176C>T | NP_001120963.2:p.His392= | |
| NM_001303238.1:c.969C>T | NP_001290167.1:p.His323= | |
| XM_006724001.1:c.969C>T | XP_006724064.1:p.His323= | |
| XM_006724001.2:c.969C>T | XP_006724064.1:p.His323= | |
| NM_000211.5:c.1176C>T MANE Select | NP_000202.3:p.His392= | |
| NM_001127491.3:c.1176C>T | NP_001120963.2:p.His392= | |
| NM_001303238.2:c.969C>T | NP_001290167.1:p.His323= |