Linked Data
ClinVar Variation Id:
420041
dbSNP Id:
rs577852020
ExAC:
17:56811549 G / A
gnomAD v2:
17-56811549-G-A
gnomAD v3:
17-58734188-G-A
gnomAD v4:
17-58734188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58734188G>A , CM000679.2:g.58734188G>A | GRCh38 |
| NC_000017.10:g.56811549G>A , CM000679.1:g.56811549G>A | GRCh37 |
| NC_000017.9:g.54166548G>A | NCBI36 |
| NG_023199.1:g.46587G>A , LRG_314:g.46587G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.*1629G>A | ENSP00000464056.2:n.*1629G>A | |
| ENST00000697680.1:c.*2061G>A | ENSP00000513392.1:n.*2061G>A | |
| ENST00000697681.1:c.*2258G>A | ENSP00000513393.1:n.*2258G>A | |
| ENST00000697683.1:c.*2033G>A | ENSP00000513395.1:n.*2033G>A | |
| ENST00000697685.1:c.*1794G>A | ENSP00000513396.1:n.*1794G>A | |
| ENST00000697686.1:c.*7G>A | ENSP00000513397.1:n.*7G>A | |
| ENST00000697689.1:c.*1511G>A | ENSP00000513398.1:n.*1511G>A | |
| ENST00000697690.1:c.*57G>A | ENSP00000513399.1:n.*57G>A | |
| ENST00000697691.1:c.*1069G>A | ENSP00000513400.1:n.*1069G>A | |
| ENST00000697692.1:c.*1109G>A | ENSP00000513401.1:n.*1109G>A | |
| ENST00000697694.1:c.746G>A | ENSP00000513402.1:p.Arg249Gln | |
| ENST00000697695.1:n.1704G>A | ||
| ENST00000337432.9:c.1097G>A MANE Select | ENSP00000336701.4:p.Arg366Gln | |
| ENST00000337432.8:c.1097G>A | ENSP00000336701.4:p.Arg366Gln | |
| ENST00000413590.5:c.738G>A | ||
| ENST00000461706.1:n.284G>A | ||
| ENST00000475762.5:c.*1733G>A | ENSP00000432421.1:n.*1733G>A | |
| ENST00000482007.5:c.*525G>A | ENSP00000433332.1:n.*525G>A | |
| ENST00000487525.5:c.*673G>A | ENSP00000431637.1:n.*673G>A | |
| ENST00000578151.1:n.310G>A | ||
| ENST00000581221.5:n.612G>A | ||
| ENST00000584804.1:c.331G>A | ENSP00000463658.1:n.331G>A | |
| NM_058216.2:c.1097G>A | NP_478123.1:p.Arg366Gln | |
| NR_103872.1:n.1001G>A | ||
| XM_006722001.2:c.1100G>A | XP_006722064.1:p.Arg367Gln | |
| XM_006722002.2:c.*7G>A | XP_006722065.1:n.*7G>A | |
| XM_006722004.2:c.749G>A | XP_006722067.1:p.Arg250Gln | |
| XM_006722005.2:c.749G>A | XP_006722068.1:p.Arg250Gln | |
| XM_011525092.1:c.749G>A | XP_011523394.1:p.Arg250Gln | |
| XM_011525093.1:c.749G>A | XP_011523395.1:p.Arg250Gln | |
| XM_011525094.1:c.749G>A | XP_011523396.1:p.Arg250Gln | |
| XR_934513.1:n.1315G>A | ||
| XR_934886.1:n.149+3883C>T | ||
| XM_006722001.4:c.1100G>A | XP_006722064.1:p.Arg367Gln | |
| XM_006722002.4:c.*7G>A | XP_006722065.1:n.*7G>A | |
| XM_006722004.3:c.749G>A | XP_006722067.1:p.Arg250Gln | |
| XM_006722005.3:c.749G>A | XP_006722068.1:p.Arg250Gln | |
| XM_011525092.2:c.749G>A | XP_011523394.1:p.Arg250Gln | |
| XM_011525093.2:c.749G>A | XP_011523395.1:p.Arg250Gln | |
| XM_011525094.2:c.749G>A | XP_011523396.1:p.Arg250Gln | |
| XM_017024914.1:c.746G>A | XP_016880403.1:p.Arg249Gln | |
| XM_017024915.1:c.746G>A | XP_016880404.1:p.Arg249Gln | |
| XM_017024916.1:c.746G>A | XP_016880405.1:p.Arg249Gln | |
| XM_017024917.1:c.746G>A | XP_016880406.1:p.Arg249Gln | |
| XM_017024918.2:c.746G>A | XP_016880407.1:p.Arg249Gln | |
| XM_017024919.1:c.*7G>A | XP_016880408.1:n.*7G>A | |
| XR_934513.3:n.1746G>A | ||
| XR_934886.2:n.149+3883C>T | ||
| NM_058216.3:c.1097G>A MANE Select | NP_478123.1:p.Arg366Gln | |
| NR_103872.2:n.972G>A |