Linked Data
ClinVar Variation Id:
448005
dbSNP Id:
rs972049140
gnomAD v2:
16-2185617-C-A
gnomAD v3:
16-2135616-C-A
gnomAD v4:
16-2135616-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2135616C>A , CM000678.2:g.2135616C>A | GRCh38 |
| NC_000016.9:g.2185617C>A , CM000678.1:g.2185617C>A | GRCh37 |
| NC_000016.8:g.2125618C>A | NCBI36 |
| NG_008617.1:g.5283G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.74G>T MANE Select | ENSP00000262304.4:p.Gly25Val | |
| ENST00000262304.8:c.74G>T | ENSP00000262304.4:p.Gly25Val | |
| ENST00000423118.5:c.74G>T | ENSP00000399501.1:p.Gly25Val | |
| NM_000296.3:c.74G>T | NP_000287.3:p.Gly25Val | |
| NM_001009944.2:c.74G>T | NP_001009944.2:p.Gly25Val | |
| XM_011522530.1:c.74G>T | XP_011520832.1:p.Gly25Val | |
| XM_011522532.1:c.74G>T | XP_011520834.1:p.Gly25Val | |
| XM_024450298.1:c.74G>T | XP_024306066.1:p.Gly25Val | |
| XM_024450299.1:c.74G>T | XP_024306067.1:p.Gly25Val | |
| NM_000296.4:c.74G>T | NP_000287.4:p.Gly25Val | |
| NM_001009944.3:c.74G>T MANE Select | NP_001009944.3:p.Gly25Val |