Linked Data
ClinVar Variation Id:
221141
dbSNP Id:
rs139297659
ExAC:
14:105238711 G / A
gnomAD v2:
14-105238711-G-A
gnomAD v3:
14-104772374-G-A
gnomAD v4:
14-104772374-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104772374G>A , CM000676.2:g.104772374G>A | GRCh38 |
| NC_000014.8:g.105238711G>A , CM000676.1:g.105238711G>A | GRCh37 |
| NC_000014.7:g.104309756G>A | NCBI36 |
| NG_012188.1:g.28371C>T , LRG_721:g.28371C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.1152C>T | ENSP00000450681.3:p.Tyr384= | |
| ENST00000554585.6:c.1251C>T | ENSP00000481526.2:p.Tyr417= | |
| ENST00000555458.6:c.1251C>T | ENSP00000451470.3:p.Tyr417= | |
| ENST00000553797.2:c.1326C>T | ENSP00000507566.1:p.Tyr442= | |
| ENST00000554826.2:n.1720C>T | ||
| ENST00000610370.2:n.1720C>T | ||
| ENST00000682269.1:n.1768C>T | ||
| ENST00000683058.1:n.1128C>T | ||
| ENST00000683722.1:c.1251C>T | ENSP00000507879.1:p.Tyr417= | |
| ENST00000684058.1:n.808C>T | ||
| ENST00000407796.7:c.1251C>T | ENSP00000384293.2:p.Tyr417= | |
| ENST00000649815.2:c.1251C>T MANE Select | ENSP00000497822.1:p.Tyr417= | |
| ENST00000349310.7:c.1251C>T | ENSP00000270202.4:p.Tyr417= | |
| ENST00000402615.6:c.1251C>T | ENSP00000385326.2:p.Tyr417= | |
| ENST00000407796.6:c.1251C>T | ENSP00000384293.2:p.Tyr417= | |
| ENST00000544168.5:n.1186C>T | ||
| ENST00000553506.5:n.1649C>T | ||
| ENST00000554192.5:c.361C>T | ||
| ENST00000554581.5:c.1251C>T | ENSP00000451828.1:p.Tyr417= | |
| ENST00000554585.5:c.423C>T | ENSP00000481526.1:p.Tyr141= | |
| ENST00000554848.5:c.1251C>T | ENSP00000451166.1:p.Tyr417= | |
| ENST00000555458.5:c.358C>T | ||
| ENST00000555528.5:c.1251C>T | ENSP00000450688.1:p.Tyr417= | |
| ENST00000557552.1:n.5698C>T | ||
| ENST00000610370.1:n.165C>T | ||
| NM_001014431.1:c.1251C>T | NP_001014431.1:p.Tyr417= | |
| NM_001014432.1:c.1251C>T , LRG_721t1:c.1251C>T | NP_001014432.1:p.Tyr417= | |
| NM_005163.2:c.1251C>T , LRG_721t2:c.1251C>T | NP_005154.2:p.Tyr417= | |
| XM_005267401.1:c.1251C>T | XP_005267458.1:p.Tyr417= | |
| XM_011536543.1:c.1251C>T | XP_011534845.1:p.Tyr417= | |
| XM_011536544.1:c.1251C>T | XP_011534846.1:p.Tyr417= | |
| XR_002957536.1:n.1451C>T | ||
| NM_001014431.2:c.1251C>T | NP_001014431.1:p.Tyr417= | |
| NM_001014432.2:c.1251C>T | NP_001014432.1:p.Tyr417= | |
| NM_001382430.1:c.1251C>T MANE Select | NP_001369359.1:p.Tyr417= | |
| NM_001382431.1:c.1251C>T | NP_001369360.1:p.Tyr417= | |
| NM_001382432.1:c.1251C>T | NP_001369361.1:p.Tyr417= | |
| NM_001382433.1:c.1251C>T | NP_001369362.1:p.Tyr417= |