Linked Data
ClinVar Variation Id:
48391
dbSNP Id:
rs55921307
ExAC:
1:215853692 G / A
gnomAD v2:
1-215853692-G-A
gnomAD v3:
1-215680350-G-A
gnomAD v4:
1-215680350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215680350G>A , CM000663.2:g.215680350G>A | GRCh38 |
| NC_000001.10:g.215853692G>A , CM000663.1:g.215853692G>A | GRCh37 |
| NC_000001.9:g.213920315G>A | NCBI36 |
| NG_009497.1:g.748047C>T | |
| NG_009497.2:g.748099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12093C>T MANE Select | ENSP00000305941.3:p.Tyr4031= | |
| ENST00000674083.1:c.12093C>T | ENSP00000501296.1:p.Tyr4031= | |
| ENST00000307340.7:c.12093C>T | ENSP00000305941.3:p.Tyr4031= | |
| NM_206933.2:c.12093C>T | NP_996816.2:p.Tyr4031= | |
| NM_206933.3:c.12093C>T | NP_996816.2:p.Tyr4031= | |
| NM_206933.4:c.12093C>T MANE Select | NP_996816.3:p.Tyr4031= |