Linked Data
ClinVar Variation Id:
327917
ClinVar RCV Id:
RCV000550222
dbSNP Id:
rs16999358
ExAC:
19:10273355 G / A
gnomAD v2:
19-10273355-G-A
gnomAD v3:
19-10162679-G-A
gnomAD v4:
19-10162679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10162679G>A , CM000681.2:g.10162679G>A | GRCh38 |
| NC_000019.9:g.10273355G>A , CM000681.1:g.10273355G>A | GRCh37 |
| NC_000019.8:g.10134355G>A | NCBI36 |
| NG_028016.3:g.73608C>T , LRG_362:g.73608C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359526.9:c.996C>T MANE Select | ENSP00000352516.3:p.Asp332= | |
| ENST00000676604.1:n.608C>T | ||
| ENST00000676610.1:c.948C>T | ENSP00000504236.1:p.Asp316= | |
| ENST00000676820.1:n.1004C>T | ||
| ENST00000676868.1:n.1632C>T | ||
| ENST00000677013.1:c.*638C>T | ENSP00000503135.1:n.*638C>T | |
| ENST00000677250.1:c.*68C>T | ENSP00000502894.1:n.*68C>T | |
| ENST00000677616.1:c.639C>T | ENSP00000503055.1:p.Asp213= | |
| ENST00000677634.1:c.948C>T | ENSP00000504246.1:p.Asp316= | |
| ENST00000677685.1:c.*173C>T | ENSP00000503407.1:n.*173C>T | |
| ENST00000677783.1:n.1418C>T | ||
| ENST00000677946.1:c.948C>T | ENSP00000504202.1:p.Asp316= | |
| ENST00000678024.1:n.1091C>T | ||
| ENST00000678694.1:n.269C>T | ||
| ENST00000678804.1:c.948C>T | ENSP00000503853.1:p.Asp316= | |
| ENST00000679103.1:c.948C>T | ENSP00000503151.1:p.Asp316= | |
| ENST00000679313.1:c.948C>T | ENSP00000504512.1:p.Asp316= | |
| ENST00000340748.8:c.948C>T | ENSP00000345739.3:p.Asp316= | |
| ENST00000359526.8:c.996C>T | ENSP00000352516.3:p.Asp332= | |
| ENST00000540357.5:c.-61C>T | ENSP00000440457.2:n.-61C>T | |
| ENST00000585920.1:n.305C>T | ||
| ENST00000589349.5:n.179C>T | ||
| ENST00000591764.1:n.174C>T | ||
| ENST00000592705.5:c.*686C>T | ENSP00000466657.1:n.*686C>T | |
| NM_001130823.1:c.996C>T , LRG_362t1:c.996C>T | NP_001124295.1:p.Asp332= | |
| NM_001379.2:c.948C>T | NP_001370.1:p.Asp316= | |
| XM_011527772.1:c.996C>T | XP_011526074.1:p.Asp332= | |
| XM_011527773.1:c.948C>T | XP_011526075.1:p.Asp316= | |
| XM_011527774.1:c.585C>T | XP_011526076.1:p.Asp195= | |
| NM_001130823.2:c.996C>T | NP_001124295.1:p.Asp332= | |
| NM_001318730.1:c.948C>T | NP_001305659.1:p.Asp316= | |
| NM_001318731.1:c.633C>T | NP_001305660.1:p.Asp211= | |
| NM_001379.3:c.948C>T | NP_001370.1:p.Asp316= | |
| NM_001130823.3:c.996C>T MANE Select | NP_001124295.1:p.Asp332= | |
| NM_001318730.2:c.948C>T | NP_001305659.1:p.Asp316= | |
| NM_001318731.2:c.633C>T | NP_001305660.1:p.Asp211= | |
| NM_001379.4:c.948C>T | NP_001370.1:p.Asp316= |