Linked Data
ClinVar Variation Id:
240103
dbSNP Id:
rs11555434
ExAC:
14:105238783 G / A
gnomAD v2:
14-105238783-G-A
gnomAD v3:
14-104772446-G-A
gnomAD v4:
14-104772446-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104772446G>A , CM000676.2:g.104772446G>A | GRCh38 |
| NC_000014.8:g.105238783G>A , CM000676.1:g.105238783G>A | GRCh37 |
| NC_000014.7:g.104309828G>A | NCBI36 |
| NG_012188.1:g.28299C>T , LRG_721:g.28299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554192.6:c.1080C>T | ENSP00000450681.3:p.Gly360= | |
| ENST00000554585.6:c.1179C>T | ENSP00000481526.2:p.Gly393= | |
| ENST00000555458.6:c.1179C>T | ENSP00000451470.3:p.Gly393= | |
| ENST00000553797.2:c.1254C>T | ENSP00000507566.1:p.Gly418= | |
| ENST00000554826.2:n.1648C>T | ||
| ENST00000610370.2:n.1648C>T | ||
| ENST00000682269.1:n.1696C>T | ||
| ENST00000683058.1:n.1056C>T | ||
| ENST00000683722.1:c.1179C>T | ENSP00000507879.1:p.Gly393= | |
| ENST00000684058.1:n.736C>T | ||
| ENST00000407796.7:c.1179C>T | ENSP00000384293.2:p.Gly393= | |
| ENST00000649815.2:c.1179C>T MANE Select | ENSP00000497822.1:p.Gly393= | |
| ENST00000349310.7:c.1179C>T | ENSP00000270202.4:p.Gly393= | |
| ENST00000402615.6:c.1179C>T | ENSP00000385326.2:p.Gly393= | |
| ENST00000407796.6:c.1179C>T | ENSP00000384293.2:p.Gly393= | |
| ENST00000544168.5:n.1114C>T | ||
| ENST00000553506.5:n.1577C>T | ||
| ENST00000554192.5:c.289C>T | ||
| ENST00000554581.5:c.1179C>T | ENSP00000451828.1:p.Gly393= | |
| ENST00000554585.5:c.351C>T | ENSP00000481526.1:p.Gly117= | |
| ENST00000554848.5:c.1179C>T | ENSP00000451166.1:p.Gly393= | |
| ENST00000555458.5:c.286C>T | ||
| ENST00000555528.5:c.1179C>T | ENSP00000450688.1:p.Gly393= | |
| ENST00000557552.1:n.5626C>T | ||
| ENST00000610370.1:n.93C>T | ||
| NM_001014431.1:c.1179C>T | NP_001014431.1:p.Gly393= | |
| NM_001014432.1:c.1179C>T , LRG_721t1:c.1179C>T | NP_001014432.1:p.Gly393= | |
| NM_005163.2:c.1179C>T , LRG_721t2:c.1179C>T | NP_005154.2:p.Gly393= | |
| XM_005267401.1:c.1179C>T | XP_005267458.1:p.Gly393= | |
| XM_011536543.1:c.1179C>T | XP_011534845.1:p.Gly393= | |
| XM_011536544.1:c.1179C>T | XP_011534846.1:p.Gly393= | |
| XR_002957536.1:n.1379C>T | ||
| NM_001014431.2:c.1179C>T | NP_001014431.1:p.Gly393= | |
| NM_001014432.2:c.1179C>T | NP_001014432.1:p.Gly393= | |
| NM_001382430.1:c.1179C>T MANE Select | NP_001369359.1:p.Gly393= | |
| NM_001382431.1:c.1179C>T | NP_001369360.1:p.Gly393= | |
| NM_001382432.1:c.1179C>T | NP_001369361.1:p.Gly393= | |
| NM_001382433.1:c.1179C>T | NP_001369362.1:p.Gly393= |