Linked Data
dbSNP Id:
rs7309
gnomAD v2:
2-162092640-G-A
gnomAD v3:
2-161236129-G-A
gnomAD v4:
2-161236129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161236129G>A , CM000664.2:g.161236129G>A | GRCh38 |
| NC_000002.11:g.162092640G>A , CM000664.1:g.162092640G>A | GRCh37 |
| NC_000002.10:g.161800886G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392749.7:c.*611G>A (TANK) MANE Select | ENSP00000376505.2:n.*611G>A | |
| ENST00000259075.6:c.*611G>A (TANK) | ENSP00000259075.2:n.*611G>A | |
| ENST00000392749.6:c.*611G>A (TANK) | ENSP00000376505.2:n.*611G>A | |
| ENST00000405852.5:c.*739G>A (TANK) | ENSP00000385487.1:n.*739G>A | |
| ENST00000437623.1:c.1665G>A (TANK) | ENSP00000412556.1:n.1665G>A | |
| NM_001199135.1:c.*611G>A (TANK) | NP_001186064.1:n.*611G>A | |
| NM_004180.2:c.*611G>A (TANK) | NP_004171.2:n.*611G>A | |
| NR_110593.1:n.348+12395C>T (PSMD14-DT) | ||
| XM_005246207.3:c.*611G>A (TANK) | XP_005246264.2:n.*611G>A | |
| XM_005246208.3:c.*611G>A (TANK) | XP_005246265.1:n.*611G>A | |
| XM_005246210.2:c.*611G>A (TANK) | XP_005246267.1:n.*611G>A | |
| XM_005246211.1:c.*611G>A (TANK) | XP_005246268.1:n.*611G>A | |
| XM_011510455.1:c.*611G>A (TANK) | XP_011508757.1:n.*611G>A | |
| NM_001199135.2:c.*611G>A (TANK) | NP_001186064.1:n.*611G>A | |
| XM_017003093.1:c.*611G>A (TANK) | XP_016858582.1:n.*611G>A | |
| XM_017003094.1:c.*611G>A (TANK) | XP_016858583.1:n.*611G>A | |
| XM_017003095.1:c.*611G>A (TANK) | XP_016858584.1:n.*611G>A | |
| XM_017003096.1:c.*611G>A (TANK) | XP_016858585.1:n.*611G>A | |
| XM_017003097.1:c.*611G>A (TANK) | XP_016858586.1:n.*611G>A | |
| XM_024452333.1:c.*611G>A (TANK) | XP_024308101.1:n.*611G>A | |
| XM_024452335.1:c.*611G>A (TANK) | XP_024308103.1:n.*611G>A | |
| XM_024452337.1:c.*611G>A (TANK) | XP_024308105.1:n.*611G>A | |
| NM_001199135.3:c.*611G>A (TANK) MANE Select | NP_001186064.1:n.*611G>A | |
| NM_004180.3:c.*611G>A (TANK) | NP_004171.2:n.*611G>A |