Linked Data
ClinVar Variation Id:
220941
dbSNP Id:
rs369048965
ExAC:
14:105239436 G / A
gnomAD v2:
14-105239436-G-A
gnomAD v3:
14-104773099-G-A
gnomAD v4:
14-104773099-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104773099G>A , CM000676.2:g.104773099G>A | GRCh38 |
| NC_000014.8:g.105239436G>A , CM000676.1:g.105239436G>A | GRCh37 |
| NC_000014.7:g.104310481G>A | NCBI36 |
| NG_012188.1:g.27646C>T , LRG_721:g.27646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.958-106C>T | ENSP00000450681.3:n.958-106C>T | |
| ENST00000554585.6:c.958-7C>T | ENSP00000481526.2:n.958-7C>T | |
| ENST00000555458.6:c.958-7C>T | ENSP00000451470.3:n.958-7C>T | |
| ENST00000553797.2:c.1033-7C>T | ENSP00000507566.1:n.1033-7C>T | |
| ENST00000554826.2:n.1427-7C>T | ||
| ENST00000610370.2:n.1427-7C>T | ||
| ENST00000682269.1:n.1475-7C>T | ||
| ENST00000683058.1:n.835-7C>T | ||
| ENST00000683722.1:c.958-7C>T | ENSP00000507879.1:n.958-7C>T | |
| ENST00000684058.1:n.515-7C>T | ||
| ENST00000407796.7:c.958-7C>T | ENSP00000384293.2:n.958-7C>T | |
| ENST00000649815.2:c.958-7C>T MANE Select | ENSP00000497822.1:n.958-7C>T | |
| ENST00000349310.7:c.958-7C>T | ENSP00000270202.4:n.958-7C>T | |
| ENST00000402615.6:c.958-7C>T | ENSP00000385326.2:n.958-7C>T | |
| ENST00000407796.6:c.958-7C>T | ENSP00000384293.2:n.958-7C>T | |
| ENST00000544168.5:n.893-7C>T | ||
| ENST00000553506.5:n.1356-7C>T | ||
| ENST00000554192.5:c.167-106C>T | ||
| ENST00000554581.5:c.958-7C>T | ENSP00000451828.1:n.958-7C>T | |
| ENST00000554585.5:c.130-7C>T | ENSP00000481526.1:n.130-7C>T | |
| ENST00000554848.5:c.958-7C>T | ENSP00000451166.1:n.958-7C>T | |
| ENST00000555458.5:c.65-7C>T | ||
| ENST00000555528.5:c.958-7C>T | ENSP00000450688.1:n.958-7C>T | |
| ENST00000557552.1:n.5398C>T | ||
| NM_001014431.1:c.958-7C>T | NP_001014431.1:n.958-7C>T | |
| NM_001014432.1:c.958-7C>T , LRG_721t1:c.958-7C>T | NP_001014432.1:n.958-7C>T | |
| NM_005163.2:c.958-7C>T , LRG_721t2:c.958-7C>T | NP_005154.2:n.958-7C>T | |
| XM_005267401.1:c.958-7C>T | XP_005267458.1:n.958-7C>T | |
| XM_011536543.1:c.958-7C>T | XP_011534845.1:n.958-7C>T | |
| XM_011536544.1:c.958-7C>T | XP_011534846.1:n.958-7C>T | |
| XR_002957536.1:n.1158-7C>T | ||
| NM_001014431.2:c.958-7C>T | NP_001014431.1:n.958-7C>T | |
| NM_001014432.2:c.958-7C>T | NP_001014432.1:n.958-7C>T | |
| NM_001382430.1:c.958-7C>T MANE Select | NP_001369359.1:n.958-7C>T | |
| NM_001382431.1:c.958-7C>T | NP_001369360.1:n.958-7C>T | |
| NM_001382432.1:c.958-7C>T | NP_001369361.1:n.958-7C>T | |
| NM_001382433.1:c.958-7C>T | NP_001369362.1:n.958-7C>T |