Linked Data
dbSNP Id:
rs11880992
gnomAD v2:
19-2176403-G-A
gnomAD v3:
19-2176404-G-A
gnomAD v4:
19-2176404-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2176404G>A , CM000681.2:g.2176404G>A | GRCh38 |
| NC_000019.9:g.2176403G>A , CM000681.1:g.2176403G>A | GRCh37 |
| NC_000019.8:g.2127403G>A | NCBI36 |
| NG_029793.1:g.17256G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686010.1:c.82-4309G>A | ENSP00000510335.1:n.82-4309G>A | |
| ENST00000398665.8:c.82-4309G>A MANE Select | ENSP00000381657.3:n.82-4309G>A | |
| ENST00000398665.7:c.82-4309G>A | ENSP00000381657.3:n.82-4309G>A | |
| ENST00000452696.5:c.82-4309G>A | ENSP00000404284.1:n.82-4309G>A | |
| ENST00000478937.3:c.69-4309G>A | ||
| NM_032482.2:c.82-4309G>A | NP_115871.1:n.82-4309G>A | |
| XM_005259659.2:c.82-4309G>A | XP_005259716.1:n.82-4309G>A | |
| XM_005259660.2:c.82-4309G>A | XP_005259717.1:n.82-4309G>A | |
| XM_006722923.2:c.-539-4309G>A | XP_006722986.1:n.-539-4309G>A | |
| XM_011528359.1:c.82-4309G>A | XP_011526661.1:n.82-4309G>A | |
| XM_011528360.1:c.-222-4309G>A | XP_011526662.1:n.-222-4309G>A | |
| XM_005259659.3:c.82-4309G>A | XP_005259716.1:n.82-4309G>A | |
| XM_005259660.3:c.82-4309G>A | XP_005259717.1:n.82-4309G>A | |
| XM_011528359.2:c.82-4309G>A | XP_011526661.1:n.82-4309G>A | |
| XM_017027366.1:c.-539-4309G>A | XP_016882855.1:n.-539-4309G>A | |
| NM_032482.3:c.82-4309G>A MANE Select | NP_115871.1:n.82-4309G>A |