Linked Data
ClinVar Variation Id:
2190798
ClinVar RCV Id:
RCV003761583
dbSNP Id:
rs1212667894
ExAC:
9:451994 T / A
gnomAD v2:
9-451994-T-A
gnomAD v3:
9-451994-T-A
gnomAD v4:
9-451994-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.451994T>A , CM000671.2:g.451994T>A | GRCh38 |
| NC_000009.11:g.451994T>A , CM000671.1:g.451994T>A | GRCh37 |
| NC_000009.10:g.441994T>A | NCBI36 |
| NG_017007.1:g.242130T>A , LRG_196:g.242130T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.5662-17T>A | ENSP00000371766.2:n.5662-17T>A | |
| ENST00000683406.1:n.2437-17T>A | ||
| ENST00000684637.1:n.1643-17T>A | ||
| ENST00000685949.1:n.4750-17T>A | ||
| ENST00000432829.7:c.5962-17T>A MANE Select | ENSP00000394888.3:n.5962-17T>A | |
| ENST00000382329.1:c.4363-17T>A | ENSP00000371766.1:n.4363-17T>A | |
| ENST00000432829.6:c.5962-17T>A | ENSP00000394888.3:n.5962-17T>A | |
| ENST00000453981.5:c.5758-17T>A | ENSP00000408464.2:n.5758-17T>A | |
| ENST00000469391.5:c.5662-17T>A | ENSP00000419438.1:n.5662-17T>A | |
| ENST00000495184.5:n.7917-17T>A | ||
| NM_001190458.1:c.5662-17T>A | NP_001177387.1:n.5662-17T>A | |
| NM_001193536.1:c.5758-17T>A | NP_001180465.1:n.5758-17T>A | |
| NM_203447.3:c.5962-17T>A , LRG_196t1:c.5962-17T>A | NP_982272.2:n.5962-17T>A | |
| XM_011518045.1:c.5662-17T>A | XP_011516347.1:n.5662-17T>A | |
| XM_011518046.1:c.5824-17T>A | XP_011516348.1:n.5824-17T>A | |
| XM_011518047.1:c.5758-17T>A | XP_011516349.1:n.5758-17T>A | |
| XM_011518048.1:c.5758-17T>A | XP_011516350.1:n.5758-17T>A | |
| XM_011518049.1:c.4198-17T>A | XP_011516351.1:n.4198-17T>A | |
| XM_011518045.3:c.5662-17T>A | XP_011516347.1:n.5662-17T>A | |
| XM_011518046.2:c.5824-17T>A | XP_011516348.1:n.5824-17T>A | |
| XM_011518047.3:c.5758-17T>A | XP_011516349.1:n.5758-17T>A | |
| XM_011518048.2:c.5758-17T>A | XP_011516350.1:n.5758-17T>A | |
| XM_011518049.2:c.4198-17T>A | XP_011516351.1:n.4198-17T>A | |
| XM_017015173.1:c.5758-17T>A | XP_016870662.1:n.5758-17T>A | |
| XM_017015174.1:c.5824-17T>A | XP_016870663.1:n.5824-17T>A | |
| NM_001190458.2:c.5662-17T>A | NP_001177387.1:n.5662-17T>A | |
| NM_001193536.2:c.5758-17T>A | NP_001180465.1:n.5758-17T>A | |
| NM_203447.4:c.5962-17T>A MANE Select | NP_982272.2:n.5962-17T>A |