Linked Data
ClinVar Variation Id:
853634
ClinVar RCV Id:
RCV001058485
dbSNP Id:
rs749186394
ExAC:
14:105237156 G / A
gnomAD v2:
14-105237156-G-A
gnomAD v3:
14-104770819-G-A
gnomAD v4:
14-104770819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104770819G>A , CM000676.2:g.104770819G>A | GRCh38 |
| NC_000014.8:g.105237156G>A , CM000676.1:g.105237156G>A | GRCh37 |
| NC_000014.7:g.104308201G>A | NCBI36 |
| NG_012188.1:g.29926C>T , LRG_721:g.29926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.1190C>T | ENSP00000450681.3:p.Thr397Met | |
| ENST00000554585.6:c.*115C>T | ENSP00000481526.2:n.*115C>T | |
| ENST00000555458.6:c.1289C>T | ENSP00000451470.3:p.Thr430Met | |
| ENST00000553797.2:c.1364C>T | ENSP00000507566.1:p.Thr455Met | |
| ENST00000554826.2:n.1758C>T | ||
| ENST00000610370.2:n.3275C>T | ||
| ENST00000683058.1:n.1166C>T | ||
| ENST00000683722.1:c.1289C>T | ENSP00000507879.1:p.Thr430Met | |
| ENST00000684058.1:n.846C>T | ||
| ENST00000407796.7:c.1289C>T | ENSP00000384293.2:p.Thr430Met | |
| ENST00000649815.2:c.1289C>T MANE Select | ENSP00000497822.1:p.Thr430Met | |
| ENST00000349310.7:c.1289C>T | ENSP00000270202.4:p.Thr430Met | |
| ENST00000402615.6:c.1289C>T | ENSP00000385326.2:p.Thr430Met | |
| ENST00000407796.6:c.1289C>T | ENSP00000384293.2:p.Thr430Met | |
| ENST00000544168.5:n.1224C>T | ||
| ENST00000553506.5:n.1687C>T | ||
| ENST00000554192.5:c.399C>T | ||
| ENST00000554581.5:c.1289C>T | ENSP00000451828.1:p.Thr430Met | |
| ENST00000554585.5:c.556C>T | ENSP00000481526.1:n.556C>T | |
| ENST00000554848.5:c.1289C>T | ENSP00000451166.1:p.Thr430Met | |
| ENST00000555458.5:c.396C>T | ||
| ENST00000555528.5:c.1289C>T | ENSP00000450688.1:p.Thr430Met | |
| ENST00000557552.1:n.7253C>T | ||
| ENST00000610370.1:n.1720C>T | ||
| NM_001014431.1:c.1289C>T | NP_001014431.1:p.Thr430Met | |
| NM_001014432.1:c.1289C>T , LRG_721t1:c.1289C>T | NP_001014432.1:p.Thr430Met | |
| NM_005163.2:c.1289C>T , LRG_721t2:c.1289C>T | NP_005154.2:p.Thr430Met | |
| XM_005267401.1:c.1289C>T | XP_005267458.1:p.Thr430Met | |
| XM_011536543.1:c.1289C>T | XP_011534845.1:p.Thr430Met | |
| XR_002957536.1:n.3006C>T | ||
| NM_001014431.2:c.1289C>T | NP_001014431.1:p.Thr430Met | |
| NM_001014432.2:c.1289C>T | NP_001014432.1:p.Thr430Met | |
| NM_001382430.1:c.1289C>T MANE Select | NP_001369359.1:p.Thr430Met | |
| NM_001382431.1:c.1289C>T | NP_001369360.1:p.Thr430Met | |
| NM_001382432.1:c.1289C>T | NP_001369361.1:p.Thr430Met | |
| NM_001382433.1:c.1289C>T | NP_001369362.1:p.Thr430Met |