Linked Data
ClinVar Variation Id:
307597
dbSNP Id:
rs762614200
ExAC:
12:124241401 G / T
gnomAD v2:
12-124241401-G-T
gnomAD v3:
12-123756854-G-T
gnomAD v4:
12-123756854-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123756854G>T , CM000674.2:g.123756854G>T | GRCh38 |
| NC_000012.11:g.124241401G>T , CM000674.1:g.124241401G>T | GRCh37 |
| NC_000012.10:g.122807354G>T | NCBI36 |
| NG_012743.1:g.49537G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.2333G>T MANE Select | ENSP00000332247.2:p.Gly778Val | |
| ENST00000675344.1:c.*1354G>T | ENSP00000501953.1:n.*1354G>T | |
| ENST00000330342.7:c.2333G>T | ENSP00000332247.2:p.Gly778Val | |
| ENST00000534943.5:c.173G>T | ENSP00000443726.1:p.Gly58Val | |
| ENST00000543687.1:n.528G>T | ||
| ENST00000544833.1:c.179G>T | ENSP00000441143.1:p.Gly60Val | |
| NM_012463.3:c.2333G>T | NP_036595.2:p.Gly778Val | |
| XM_005253563.1:c.2213G>T | XP_005253620.1:p.Gly738Val | |
| XM_006719317.2:c.1820G>T | XP_006719380.1:p.Gly607Val | |
| XM_006719318.2:c.1511G>T | XP_006719381.1:p.Gly504Val | |
| XR_429088.1:n.2496G>T | ||
| XM_024448910.1:c.2213G>T | XP_024304678.1:p.Gly738Val | |
| XM_024448911.1:c.1820G>T | XP_024304679.1:p.Gly607Val | |
| XM_024448912.1:c.1511G>T | XP_024304680.1:p.Gly504Val | |
| NM_012463.4:c.2333G>T MANE Select | NP_036595.2:p.Gly778Val |