Linked Data
ClinVar Variation Id:
53423
dbSNP Id:
rs397508328
ExAC:
7:117120149 A / G
gnomAD v2:
7-117120149-A-G
gnomAD v4:
7-117480095-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117480095A>G , CM000669.2:g.117480095A>G | GRCh38 |
| NC_000007.13:g.117120149A>G , CM000669.1:g.117120149A>G | GRCh37 |
| NC_000007.12:g.116907385A>G | NCBI36 |
| NG_016465.4:g.19312A>G , LRG_663:g.19312A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1A>G | ENSP00000497673.2:p.Met1Val | |
| ENST00000647978.2:c.1A>G | ENSP00000497658.1:p.Met1Val | |
| ENST00000649781.2:c.1A>G | ENSP00000497203.1:p.Met1Val | |
| ENST00000649850.2:c.1A>G | ENSP00000514457.1:p.Met1Val | |
| ENST00000685018.2:c.1A>G | ENSP00000510194.2:p.Met1Val | |
| ENST00000687278.2:c.1A>G | ENSP00000509593.2:p.Met1Val | |
| ENST00000692802.2:n.85A>G | ||
| ENST00000693465.2:n.86A>G | ||
| ENST00000693480.2:n.85A>G | ||
| ENST00000699585.1:c.1A>G | ENSP00000514456.1:p.Met1Val | |
| ENST00000699596.1:c.1A>G | ENSP00000514465.1:p.Met1Val | |
| ENST00000699597.1:c.1A>G | ENSP00000514466.1:p.Met1Val | |
| ENST00000699598.1:c.1A>G | ENSP00000514467.1:p.Met1Val | |
| ENST00000699599.1:c.1A>G | ENSP00000514468.1:p.Met1Val | |
| ENST00000699600.1:c.1A>G | ENSP00000514469.1:p.Met1Val | |
| ENST00000699601.1:c.1A>G | ENSP00000514470.1:p.Met1Val | |
| ENST00000699602.1:c.1A>G | ENSP00000514471.1:p.Met1Val | |
| ENST00000699603.1:n.85A>G | ||
| ENST00000699604.1:c.1A>G | ENSP00000514472.1:p.Met1Val | |
| ENST00000699605.1:c.-352A>G | ENSP00000514473.1:n.-352A>G | |
| ENST00000446805.2:c.-191+401A>G | ENSP00000417012.1:n.-191+401A>G | |
| ENST00000692802.1:n.71A>G | ||
| ENST00000693465.1:n.71A>G | ||
| ENST00000693480.1:n.71A>G | ||
| ENST00000003084.11:c.1A>G MANE Select | ENSP00000003084.6:p.Met1Val | |
| ENST00000647639.1:n.85A>G | ||
| ENST00000647978.1:c.1A>G | ENSP00000497658.1:p.Met1Val | |
| ENST00000648260.1:c.1A>G | ENSP00000497957.1:p.Met1Val | |
| ENST00000649406.1:c.1A>G | ENSP00000497965.1:p.Met1Val | |
| ENST00000649781.1:c.1A>G | ENSP00000497203.1:p.Met1Val | |
| ENST00000649850.1:n.84A>G | ||
| ENST00000673785.1:c.-406+14264A>G | ENSP00000501235.1:n.-406+14264A>G | |
| ENST00000003084.10:c.1A>G | ENSP00000003084.6:p.Met1Val | |
| ENST00000426809.5:c.1A>G | ENSP00000389119.1:p.Met1Val | |
| ENST00000446805.1:c.-191+401A>G | ENSP00000417012.1:n.-191+401A>G | |
| ENST00000546407.1:n.166+4287A>G | ||
| NM_000492.3:c.1A>G , LRG_663t1:c.1A>G | NP_000483.3:p.Met1Val | |
| XM_011515751.1:c.143+750A>G | XP_011514053.1:n.143+750A>G | |
| XM_011515752.1:c.143+750A>G | XP_011514054.1:n.143+750A>G | |
| XM_011515753.1:c.-191+401A>G | XP_011514055.1:n.-191+401A>G | |
| XM_011515754.1:c.-518-53A>G | XP_011514056.1:n.-518-53A>G | |
| NM_000492.4:c.1A>G MANE Select | NP_000483.3:p.Met1Val |