Linked Data
ClinVar Variation Id:
30219
dbSNP Id:
rs61736587
ExAC:
19:7712322 G / A
gnomAD v2:
19-7712322-G-A
gnomAD v3:
19-7647436-G-A
gnomAD v4:
19-7647436-G-A
PubMed:
PMID:20798128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7647436G>A , CM000681.2:g.7647436G>A | GRCh38 |
| NC_000019.9:g.7712322G>A , CM000681.1:g.7712322G>A | GRCh37 |
| NC_000019.8:g.7618322G>A | NCBI36 |
| NG_016709.1:g.15332G>A , LRG_165:g.15332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595866.2:c.*1575G>A | ENSP00000469553.2:n.*1575G>A | |
| ENST00000600702.6:c.1538+189G>A | ENSP00000471737.2:n.1538+189G>A | |
| ENST00000698368.1:c.*1724G>A | ENSP00000513686.1:n.*1724G>A | |
| ENST00000698369.1:n.2771G>A | ||
| ENST00000221283.10:c.1621G>A MANE Select | ENSP00000221283.4:p.Gly541Ser | |
| ENST00000221283.9:c.1621G>A | ENSP00000221283.4:p.Gly541Ser | |
| ENST00000414284.6:c.1612G>A | ENSP00000409471.1:p.Gly538Ser | |
| ENST00000441779.6:c.1654G>A | ENSP00000413606.2:p.Gly552Ser | |
| ENST00000595800.1:n.1538G>A | ||
| ENST00000597068.5:c.*369G>A | ENSP00000471327.1:n.*369G>A | |
| ENST00000599278.1:n.276G>A | ||
| ENST00000599400.1:c.622G>A | ||
| ENST00000599737.5:c.1328G>A | ENSP00000471585.1:n.1328G>A | |
| ENST00000600702.5:c.621+189G>A | ||
| ENST00000601061.1:n.482G>A | ||
| ENST00000602355.1:c.226G>A | ENSP00000473406.1:p.Gly76Ser | |
| ENST00000622853.4:c.1621G>A | ENSP00000480468.1:p.Gly541Ser | |
| NM_001127396.2:c.1612G>A | NP_001120868.1:p.Gly538Ser | |
| NM_001272034.1:c.1654G>A | NP_001258963.1:p.Gly552Ser | |
| NM_006949.3:c.1621G>A | NP_008880.2:p.Gly541Ser | |
| NR_073560.1:n.1645G>A | ||
| NM_006949.4:c.1621G>A MANE Select | NP_008880.2:p.Gly541Ser | |
| NM_001127396.3:c.1612G>A | NP_001120868.1:p.Gly538Ser | |
| NM_001272034.2:c.1654G>A | NP_001258963.1:p.Gly552Ser | |
| NR_073560.2:n.1636G>A |