Linked Data
ClinVar Variation Id:
178348
dbSNP Id:
rs137932057
ExAC:
13:20763700 C / T
gnomAD v2:
13-20763700-C-T
gnomAD v3:
13-20189561-C-T
gnomAD v4:
13-20189561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189561C>T , CM000675.2:g.20189561C>T | GRCh38 |
| NC_000013.10:g.20763700C>T , CM000675.1:g.20763700C>T | GRCh37 |
| NC_000013.9:g.19661700C>T | NCBI36 |
| NG_008358.1:g.8415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.21G>A | ENSP00000372295.1:p.Gln7= | |
| ENST00000382848.5:c.21G>A MANE Select | ENSP00000372299.4:p.Gln7= | |
| ENST00000382844.1:c.21G>A | ENSP00000372295.1:p.Gln7= | |
| ENST00000382848.4:c.21G>A | ENSP00000372299.4:p.Gln7= | |
| NM_004004.5:c.21G>A | NP_003995.2:p.Gln7= | |
| XM_011535049.1:c.21G>A | XP_011533351.1:p.Gln7= | |
| XM_011535049.2:c.21G>A | XP_011533351.1:p.Gln7= | |
| NM_004004.6:c.21G>A MANE Select | NP_003995.2:p.Gln7= |