Linked Data
ClinVar Variation Id:
3231874
ClinVar RCV Id:
RCV004518589
dbSNP Id:
rs1792306355
gnomAD v3:
7-117606716-A-G
gnomAD v4:
7-117606716-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117606716A>G , CM000669.2:g.117606716A>G | GRCh38 |
| NC_000007.13:g.117246770A>G , CM000669.1:g.117246770A>G | GRCh37 |
| NC_000007.12:g.117034006A>G | NCBI36 |
| NG_016465.4:g.145933A>G , LRG_663:g.145933A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2951A>G | ENSP00000497673.2:p.Asp984Gly | |
| ENST00000647978.2:c.*2665A>G | ENSP00000497658.1:n.*2665A>G | |
| ENST00000649781.2:c.2768A>G | ENSP00000497203.1:p.Asp923Gly | |
| ENST00000685018.2:c.2951A>G | ENSP00000510194.2:p.Asp984Gly | |
| ENST00000687278.2:c.2951A>G | ENSP00000509593.2:p.Asp984Gly | |
| ENST00000699585.1:c.2951A>G | ENSP00000514456.1:p.Asp984Gly | |
| ENST00000699598.1:c.2951A>G | ENSP00000514467.1:p.Asp984Gly | |
| ENST00000699599.1:c.2951A>G | ENSP00000514468.1:p.Asp984Gly | |
| ENST00000699600.1:c.2951A>G | ENSP00000514469.1:p.Asp984Gly | |
| ENST00000699601.1:c.*1251A>G | ENSP00000514470.1:n.*1251A>G | |
| ENST00000699602.1:c.2951A>G | ENSP00000514471.1:p.Asp984Gly | |
| ENST00000699604.1:c.*2775A>G | ENSP00000514472.1:n.*2775A>G | |
| ENST00000699605.1:c.2525A>G | ENSP00000514473.1:p.Asp842Gly | |
| ENST00000687278.1:c.542A>G | ENSP00000509593.1:p.Asp181Gly | |
| ENST00000003084.11:c.2951A>G MANE Select | ENSP00000003084.6:p.Asp984Gly | |
| ENST00000647720.1:c.601A>G | ||
| ENST00000648260.1:c.1733A>G | ENSP00000497957.1:p.Asp578Gly | |
| ENST00000649406.1:c.2768A>G | ENSP00000497965.1:p.Asp923Gly | |
| ENST00000649781.1:c.2768A>G | ENSP00000497203.1:p.Asp923Gly | |
| ENST00000003084.10:c.2951A>G | ENSP00000003084.6:p.Asp984Gly | |
| ENST00000426809.5:c.2861A>G | ENSP00000389119.1:p.Asp954Gly | |
| NM_000492.3:c.2951A>G , LRG_663t1:c.2951A>G | NP_000483.3:p.Asp984Gly | |
| XM_011515751.1:c.3041A>G | XP_011514053.1:p.Asp1014Gly | |
| XM_011515752.1:c.3041A>G | XP_011514054.1:p.Asp1014Gly | |
| XM_011515753.1:c.2708A>G | XP_011514055.1:p.Asp903Gly | |
| XM_011515754.1:c.2708A>G | XP_011514056.1:p.Asp903Gly | |
| NM_000492.4:c.2951A>G MANE Select | NP_000483.3:p.Asp984Gly |