Linked Data
ClinVar Variation Id:
53627
dbSNP Id:
rs397508480
ExAC:
7:117250601 C / A
gnomAD v2:
7-117250601-C-A
gnomAD v4:
7-117610547-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117610547C>A , CM000669.2:g.117610547C>A | GRCh38 |
| NC_000007.13:g.117250601C>A , CM000669.1:g.117250601C>A | GRCh37 |
| NC_000007.12:g.117037837C>A | NCBI36 |
| NG_016465.4:g.149764C>A , LRG_663:g.149764C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3017C>A | ENSP00000497673.2:p.Ala1006Glu | |
| ENST00000647978.2:c.*2731C>A | ENSP00000497658.1:n.*2731C>A | |
| ENST00000649781.2:c.2834C>A | ENSP00000497203.1:p.Ala945Glu | |
| ENST00000685018.2:c.3017C>A | ENSP00000510194.2:p.Ala1006Glu | |
| ENST00000687278.2:c.3017C>A | ENSP00000509593.2:p.Ala1006Glu | |
| ENST00000699585.1:c.3017C>A | ENSP00000514456.1:p.Ala1006Glu | |
| ENST00000699598.1:c.3017C>A | ENSP00000514467.1:p.Ala1006Glu | |
| ENST00000699599.1:c.3017C>A | ENSP00000514468.1:p.Ala1006Glu | |
| ENST00000699600.1:c.3017C>A | ENSP00000514469.1:p.Ala1006Glu | |
| ENST00000699601.1:c.*1317C>A | ENSP00000514470.1:n.*1317C>A | |
| ENST00000699602.1:c.3017C>A | ENSP00000514471.1:p.Ala1006Glu | |
| ENST00000699604.1:c.*2841C>A | ENSP00000514472.1:n.*2841C>A | |
| ENST00000699605.1:c.2591C>A | ENSP00000514473.1:p.Ala864Glu | |
| ENST00000687278.1:c.608C>A | ENSP00000509593.1:p.Ala203Glu | |
| ENST00000003084.11:c.3017C>A MANE Select | ENSP00000003084.6:p.Ala1006Glu | |
| ENST00000647720.1:c.667C>A | ||
| ENST00000648260.1:c.1799C>A | ENSP00000497957.1:p.Ala600Glu | |
| ENST00000649406.1:c.2834C>A | ENSP00000497965.1:p.Ala945Glu | |
| ENST00000649781.1:c.2834C>A | ENSP00000497203.1:p.Ala945Glu | |
| ENST00000003084.10:c.3017C>A | ENSP00000003084.6:p.Ala1006Glu | |
| ENST00000426809.5:c.2927C>A | ENSP00000389119.1:p.Ala976Glu | |
| NM_000492.3:c.3017C>A , LRG_663t1:c.3017C>A | NP_000483.3:p.Ala1006Glu | |
| XM_011515751.1:c.3107C>A | XP_011514053.1:p.Ala1036Glu | |
| XM_011515752.1:c.3107C>A | XP_011514054.1:p.Ala1036Glu | |
| XM_011515753.1:c.2774C>A | XP_011514055.1:p.Ala925Glu | |
| XM_011515754.1:c.2774C>A | XP_011514056.1:p.Ala925Glu | |
| NM_000492.4:c.3017C>A MANE Select | NP_000483.3:p.Ala1006Glu |