Linked Data
dbSNP Id:
rs1847874688
gnomAD v4:
9-128541172-G-A
MyVariant Identifiers:
chr9:g.131303451G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541172G>A , CM000671.2:g.128541172G>A | GRCh38 |
| NC_000009.11:g.131303451G>A , CM000671.1:g.131303451G>A | GRCh37 |
| NC_000009.10:g.130343272G>A | NCBI36 |
| NG_012073.1:g.41481G>A , LRG_484:g.41481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1170G>A | ENSP00000507095.1:n.*1170G>A | |
| ENST00000683288.1:c.*2098G>A | ENSP00000507477.1:n.*2098G>A | |
| ENST00000683748.1:c.*2G>A | ENSP00000507377.1:n.*2G>A | |
| ENST00000683905.1:c.*775G>A | ENSP00000506960.1:n.*775G>A | |
| ENST00000684139.1:c.*2G>A | ENSP00000507295.1:n.*2G>A | |
| ENST00000684210.1:n.1812G>A | ||
| ENST00000684314.1:c.*2G>A | ENSP00000507700.1:n.*2G>A | |
| ENST00000684331.1:c.*819G>A | ENSP00000507431.1:n.*819G>A | |
| ENST00000684463.1:n.737G>A | ||
| ENST00000684646.1:c.*2G>A | ENSP00000507723.1:n.*2G>A | |
| ENST00000309971.9:c.*2G>A MANE Select | ENSP00000308622.5:n.*2G>A | |
| ENST00000309971.8:c.*2G>A | ENSP00000308622.4:n.*2G>A | |
| NM_001003722.1:c.*2G>A , LRG_484t1:c.*2G>A | NP_001003722.1:n.*2G>A | |
| XM_006717059.2:c.*2G>A | XP_006717122.1:n.*2G>A | |
| XM_006717060.2:c.*2G>A | XP_006717123.1:n.*2G>A | |
| XM_011518549.1:c.*2G>A | XP_011516851.1:n.*2G>A | |
| XM_011518550.1:c.*2G>A | XP_011516852.1:n.*2G>A | |
| XM_011518551.1:c.*2G>A | XP_011516853.1:n.*2G>A | |
| XM_011518552.1:c.*2G>A | XP_011516854.1:n.*2G>A | |
| XR_242681.3:n.100+2207C>T | ||
| XM_006717059.3:c.*2G>A | XP_006717122.1:n.*2G>A | |
| XM_006717060.3:c.*2G>A | XP_006717123.1:n.*2G>A | |
| XM_011518551.2:c.*2G>A | XP_011516853.1:n.*2G>A | |
| XM_024447519.1:c.*2G>A | XP_024303287.1:n.*2G>A | |
| NM_001003722.2:c.*2G>A MANE Select | NP_001003722.1:n.*2G>A |