Linked Data
ClinVar Variation Id:
53730
dbSNP Id:
rs397508550
ExAC:
7:117254688 G / C
gnomAD v2:
7-117254688-G-C
gnomAD v4:
7-117614634-G-C
PubMed:
PMID:15070876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614634G>C , CM000669.2:g.117614634G>C | GRCh38 |
| NC_000007.13:g.117254688G>C , CM000669.1:g.117254688G>C | GRCh37 |
| NC_000007.12:g.117041924G>C | NCBI36 |
| NG_016465.4:g.153851G>C , LRG_663:g.153851G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3389G>C | ENSP00000497673.2:p.Gly1130Ala | |
| ENST00000647978.2:c.*3103G>C | ENSP00000497658.1:n.*3103G>C | |
| ENST00000649781.2:c.3206G>C | ENSP00000497203.1:p.Gly1069Ala | |
| ENST00000685018.2:c.3389G>C | ENSP00000510194.2:p.Gly1130Ala | |
| ENST00000687278.2:c.3389G>C | ENSP00000509593.2:p.Gly1130Ala | |
| ENST00000699585.1:c.3389G>C | ENSP00000514456.1:p.Gly1130Ala | |
| ENST00000699598.1:c.3389G>C | ENSP00000514467.1:p.Gly1130Ala | |
| ENST00000699599.1:c.3389G>C | ENSP00000514468.1:p.Gly1130Ala | |
| ENST00000699600.1:c.3389G>C | ENSP00000514469.1:p.Gly1130Ala | |
| ENST00000699601.1:c.*1764G>C | ENSP00000514470.1:n.*1764G>C | |
| ENST00000699602.1:c.3383G>C | ENSP00000514471.1:p.Gly1128Ala | |
| ENST00000699604.1:c.*3213G>C | ENSP00000514472.1:n.*3213G>C | |
| ENST00000699605.1:c.2963G>C | ENSP00000514473.1:p.Gly988Ala | |
| ENST00000685018.1:c.137G>C | ENSP00000510194.1:p.Gly46Ala | |
| ENST00000687278.1:c.980G>C | ENSP00000509593.1:p.Gly327Ala | |
| ENST00000003084.11:c.3389G>C MANE Select | ENSP00000003084.6:p.Gly1130Ala | |
| ENST00000647720.1:c.1039G>C | ||
| ENST00000648260.1:c.2171G>C | ENSP00000497957.1:p.Gly724Ala | |
| ENST00000649406.1:c.3206G>C | ENSP00000497965.1:p.Gly1069Ala | |
| ENST00000649781.1:c.3206G>C | ENSP00000497203.1:p.Gly1069Ala | |
| ENST00000003084.10:c.3389G>C | ENSP00000003084.6:p.Gly1130Ala | |
| ENST00000426809.5:c.3299G>C | ENSP00000389119.1:p.Gly1100Ala | |
| ENST00000468795.1:c.214G>C | ||
| NM_000492.3:c.3389G>C , LRG_663t1:c.3389G>C | NP_000483.3:p.Gly1130Ala | |
| XM_011515751.1:c.3479G>C | XP_011514053.1:p.Gly1160Ala | |
| XM_011515752.1:c.3479G>C | XP_011514054.1:p.Gly1160Ala | |
| XM_011515753.1:c.3146G>C | XP_011514055.1:p.Gly1049Ala | |
| XM_011515754.1:c.3146G>C | XP_011514056.1:p.Gly1049Ala | |
| NM_000492.4:c.3389G>C MANE Select | NP_000483.3:p.Gly1130Ala |