Linked Data
ClinVar Variation Id:
2052139
dbSNP Id:
rs371673923
ExAC:
14:99641028 G / A
gnomAD v2:
14-99641028-G-A
gnomAD v4:
14-99174691-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99174691G>A , CM000676.2:g.99174691G>A | GRCh38 |
| NC_000014.8:g.99641028G>A , CM000676.1:g.99641028G>A | GRCh37 |
| NC_000014.7:g.98710781G>A | NCBI36 |
| NG_027894.1:g.101795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357195.8:c.2145C>T MANE Select | ENSP00000349723.3:p.Tyr715= | |
| ENST00000345514.2:c.1932C>T | ENSP00000280435.6:p.Tyr644= | |
| ENST00000357195.7:c.2145C>T | ENSP00000349723.3:p.Tyr715= | |
| ENST00000443726.2:c.1563C>T | ENSP00000387419.2:p.Tyr521= | |
| NM_001282237.1:c.2142C>T | NP_001269166.1:p.Tyr714= | |
| NM_001282238.1:c.1929C>T | NP_001269167.1:p.Tyr643= | |
| NM_022898.2:c.1932C>T | NP_075049.1:p.Tyr644= | |
| NM_138576.3:c.2145C>T | NP_612808.1:p.Tyr715= | |
| XM_011537100.1:c.2007C>T | XP_011535402.1:p.Tyr669= | |
| NM_138576.4:c.2145C>T MANE Select | NP_612808.1:p.Tyr715= | |
| NM_001282237.2:c.2142C>T | NP_001269166.1:p.Tyr714= | |
| NM_001282238.2:c.1929C>T | NP_001269167.1:p.Tyr643= | |
| NM_022898.3:c.1932C>T | NP_075049.1:p.Tyr644= |