Linked Data
ClinVar Variation Id:
313298
dbSNP Id:
rs146975855
ExAC:
14:51080015 C / T
gnomAD v2:
14-51080015-C-T
gnomAD v3:
14-50613297-C-T
gnomAD v4:
14-50613297-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50613297C>T , CM000676.2:g.50613297C>T | GRCh38 |
| NC_000014.8:g.51080015C>T , CM000676.1:g.51080015C>T | GRCh37 |
| NC_000014.7:g.50149765C>T | NCBI36 |
| NG_009028.1:g.85216C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553509.2:c.669C>T | ENSP00000450989.2:p.Tyr223= | |
| ENST00000556478.3:c.669C>T | ENSP00000501428.2:p.Tyr223= | |
| ENST00000682037.1:c.669C>T | ENSP00000508289.1:p.Tyr223= | |
| ENST00000682219.1:n.2007C>T | ||
| ENST00000682487.1:n.1003C>T | ||
| ENST00000683037.1:n.590C>T | ||
| ENST00000683330.1:n.1003C>T | ||
| ENST00000683837.1:n.1003C>T | ||
| ENST00000358385.12:c.669C>T MANE Select | ENSP00000351155.7:p.Tyr223= | |
| ENST00000674288.1:c.*1961C>T | ENSP00000501522.1:n.*1961C>T | |
| ENST00000358385.10:c.669C>T | ENSP00000351155.6:p.Tyr223= | |
| ENST00000441560.6:c.669C>T | ENSP00000413675.2:p.Tyr223= | |
| NM_001127713.1:c.669C>T | NP_001121185.1:p.Tyr223= | |
| NM_015915.4:c.669C>T | NP_056999.2:p.Tyr223= | |
| NM_181598.3:c.669C>T | NP_853629.2:p.Tyr223= | |
| NM_015915.5:c.669C>T MANE Select | NP_056999.2:p.Tyr223= | |
| NM_181598.4:c.669C>T | NP_853629.2:p.Tyr223= |