Linked Data
ClinVar Variation Id:
100746
dbSNP Id:
rs2230529
ExAC:
21:46313442 G / T
gnomAD v2:
21-46313442-G-T
gnomAD v3:
21-44893527-G-T
gnomAD v4:
21-44893527-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44893527G>T , CM000683.2:g.44893527G>T | GRCh38 |
| NC_000021.8:g.46313442G>T , CM000683.1:g.46313442G>T | GRCh37 |
| NC_000021.7:g.45137870G>T | NCBI36 |
| NG_007270.2:g.40312C>A , LRG_76:g.40312C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.1173C>A | ENSP00000303242.6:p.Val391= | |
| ENST00000652462.1:c.1101C>A MANE Select | ENSP00000498780.1:p.Val367= | |
| ENST00000302347.9:c.1101C>A | ENSP00000303242.5:p.Val367= | |
| ENST00000355153.8:c.1101C>A | ENSP00000347279.4:p.Val367= | |
| ENST00000397850.6:c.1101C>A | ENSP00000380948.2:p.Val367= | |
| ENST00000397852.5:c.1101C>A | ENSP00000380950.1:p.Val367= | |
| ENST00000397854.7:c.930C>A | ENSP00000380952.3:p.Val310= | |
| ENST00000397857.5:c.1101C>A | ENSP00000380955.1:p.Val367= | |
| ENST00000475170.5:n.501C>A | ||
| ENST00000498666.5:n.2670C>A | ||
| ENST00000523323.5:c.*928C>A | ENSP00000427732.1:n.*928C>A | |
| ENST00000610622.4:c.930C>A | ENSP00000480700.1:p.Val310= | |
| NM_000211.4:c.1101C>A | NP_000202.3:p.Val367= | |
| NM_001127491.2:c.1101C>A | NP_001120963.2:p.Val367= | |
| NM_001303238.1:c.894C>A | NP_001290167.1:p.Val298= | |
| XM_006724001.1:c.894C>A | XP_006724064.1:p.Val298= | |
| XM_006724001.2:c.894C>A | XP_006724064.1:p.Val298= | |
| NM_000211.5:c.1101C>A MANE Select | NP_000202.3:p.Val367= | |
| NM_001127491.3:c.1101C>A | NP_001120963.2:p.Val367= | |
| NM_001303238.2:c.894C>A | NP_001290167.1:p.Val298= |