Linked Data
ClinVar Variation Id:
67491
dbSNP Id:
rs199473032
ExAC:
7:150642586 G / A
gnomAD v2:
7-150642586-G-A
gnomAD v3:
7-150945498-G-A
gnomAD v4:
7-150945498-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150945498G>A , CM000669.2:g.150945498G>A | GRCh38 |
| NC_000007.13:g.150642586G>A , CM000669.1:g.150642586G>A | GRCh37 |
| NC_000007.12:g.150273519G>A | NCBI36 |
| NG_008916.1:g.37429C>T , LRG_288:g.37429C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.4180C>T | ||
| ENST00000262186.10:c.3347C>T MANE Select | ENSP00000262186.5:p.Ala1116Val | |
| ENST00000330883.9:c.2327C>T | ENSP00000328531.4:p.Ala776Val | |
| ENST00000262186.9:c.3347C>T | ENSP00000262186.5:p.Ala1116Val | |
| ENST00000330883.8:c.2327C>T | ENSP00000328531.4:p.Ala776Val | |
| NM_000238.3:c.3347C>T , LRG_288t1:c.3347C>T | NP_000229.1:p.Ala1116Val | |
| NM_172057.2:c.2327C>T , LRG_288t3:c.2327C>T | NP_742054.1:p.Ala776Val | |
| XM_011516185.1:c.3047C>T | XP_011514487.1:p.Ala1016Val | |
| XM_011516185.2:c.3047C>T | XP_011514487.1:p.Ala1016Val | |
| XM_017012195.1:c.3197C>T | XP_016867684.1:p.Ala1066Val | |
| XM_017012196.1:c.3170C>T | XP_016867685.1:p.Ala1057Val | |
| NM_000238.4:c.3347C>T MANE Select | NP_000229.1:p.Ala1116Val | |
| NM_172057.3:c.2327C>T | NP_742054.1:p.Ala776Val |