Linked Data
dbSNP Id:
rs12279572
gnomAD v2:
11-117952960-A-G
gnomAD v3:
11-118082245-A-G
gnomAD v4:
11-118082245-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118082245A>G , CM000673.2:g.118082245A>G | GRCh38 |
| NC_000011.9:g.117952960A>G , CM000673.1:g.117952960A>G | GRCh37 |
| NC_000011.8:g.117458170A>G | NCBI36 |
| NG_011858.2:g.10234A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689828.1:c.7+4506T>C (SMIM35) MANE Select | ENSP00000509259.1:n.7+4506T>C | |
| ENST00000437212.8:c.3+4940A>G (TMPRSS4) MANE Select | ENSP00000416037.3:n.3+4940A>G | |
| ENST00000527329.5:n.43+4506T>C (SMIM35) | ||
| ENST00000527695.1:n.43+4506T>C (SMIM35) | ||
| ENST00000606951.5:n.43+4506T>C (SMIM35) | ||
| ENST00000636151.1:c.7+4506T>C (SMIM35) | ENSP00000490666.1:n.7+4506T>C | |
| ENST00000437212.7:c.3+4940A>G (TMPRSS4) | ENSP00000416037.3:n.3+4940A>G | |
| ENST00000517483.5:c.3+4940A>G (TMPRSS4) | ENSP00000431062.1:n.3+4940A>G | |
| ENST00000519126.1:n.268+4940A>G (TMPRSS4) | ||
| ENST00000519236.5:c.3+4940A>G (TMPRSS4) | ENSP00000429889.1:n.3+4940A>G | |
| ENST00000520063.1:n.133+4940A>G (TMPRSS4) | ||
| ENST00000522151.5:c.3+4940A>G (TMPRSS4) | ENSP00000428407.1:n.3+4940A>G | |
| ENST00000522307.5:c.-354+4940A>G (TMPRSS4) | ENSP00000428814.1:n.-354+4940A>G | |
| ENST00000522824.5:c.3+4940A>G (TMPRSS4) | ENSP00000430547.1:n.3+4940A>G | |
| ENST00000523251.5:c.3+4940A>G (TMPRSS4) | ENSP00000429209.1:n.3+4940A>G | |
| ENST00000534111.5:c.3+4940A>G (TMPRSS4) | ENSP00000435184.1:n.3+4940A>G | |
| ENST00000610964.4:c.-41+4940A>G (TMPRSS4) | ENSP00000480370.1:n.-41+4940A>G | |
| ENST00000616579.4:c.3+4940A>G (TMPRSS4) | ENSP00000478147.1:n.3+4940A>G | |
| ENST00000618855.4:c.3+4940A>G (TMPRSS4) | ENSP00000477949.1:n.3+4940A>G | |
| NM_001083947.1:c.3+4940A>G (TMPRSS4) | NP_001077416.1:n.3+4940A>G | |
| NM_001173551.1:c.3+4940A>G (TMPRSS4) | NP_001167022.1:n.3+4940A>G | |
| NM_001173552.1:c.3+4940A>G (TMPRSS4) | NP_001167023.1:n.3+4940A>G | |
| NM_001290094.1:c.-77+4940A>G (TMPRSS4) | NP_001277023.1:n.-77+4940A>G | |
| NM_001290096.1:c.-354+4940A>G (TMPRSS4) | NP_001277025.1:n.-354+4940A>G | |
| NM_019894.3:c.3+4940A>G (TMPRSS4) | NP_063947.1:n.3+4940A>G | |
| NR_038318.1:n.43+4506T>C (SMIM35) | ||
| NR_110734.1:n.294+4940A>G (TMPRSS4) | ||
| XM_005271613.2:c.3+4940A>G (TMPRSS4) | XP_005271670.1:n.3+4940A>G | |
| XM_005271614.2:c.3+4940A>G (TMPRSS4) | XP_005271671.1:n.3+4940A>G | |
| XM_005271615.2:c.3+4940A>G (TMPRSS4) | XP_005271672.1:n.3+4940A>G | |
| XM_011542901.1:c.3+4940A>G (TMPRSS4) | XP_011541203.1:n.3+4940A>G | |
| XM_011542902.1:c.3+4940A>G (TMPRSS4) | XP_011541204.1:n.3+4940A>G | |
| XM_011542903.1:c.3+4940A>G (TMPRSS4) | XP_011541205.1:n.3+4940A>G | |
| XM_011542904.1:c.3+4940A>G (TMPRSS4) | XP_011541206.1:n.3+4940A>G | |
| NM_001354434.1:c.-31+4506T>C (SMIM35) | NP_001341363.1:n.-31+4506T>C | |
| XM_005271613.4:c.3+4940A>G (TMPRSS4) | XP_005271670.1:n.3+4940A>G | |
| XM_005271614.3:c.3+4940A>G (TMPRSS4) | XP_005271671.1:n.3+4940A>G | |
| XM_005271615.3:c.3+4940A>G (TMPRSS4) | XP_005271672.1:n.3+4940A>G | |
| XM_011542901.2:c.3+4940A>G (TMPRSS4) | XP_011541203.1:n.3+4940A>G | |
| XM_011542902.2:c.3+4940A>G (TMPRSS4) | XP_011541204.1:n.3+4940A>G | |
| XM_011542903.3:c.3+4940A>G (TMPRSS4) | XP_011541205.1:n.3+4940A>G | |
| XM_011542904.2:c.3+4940A>G (TMPRSS4) | XP_011541206.1:n.3+4940A>G | |
| XM_024448283.1:c.-31+4506T>C (SMIM35) | XP_024304051.1:n.-31+4506T>C | |
| NM_001354434.2:c.-31+4506T>C (SMIM35) | NP_001341363.1:n.-31+4506T>C | |
| NM_019894.4:c.3+4940A>G (TMPRSS4) MANE Select | NP_063947.2:n.3+4940A>G | |
| NM_001083947.2:c.3+4940A>G (TMPRSS4) | NP_001077416.2:n.3+4940A>G | |
| NM_001173551.2:c.3+4940A>G (TMPRSS4) | NP_001167022.2:n.3+4940A>G | |
| NM_001173552.2:c.3+4940A>G (TMPRSS4) | NP_001167023.2:n.3+4940A>G | |
| NM_001290094.2:c.-77+4940A>G (TMPRSS4) | NP_001277023.2:n.-77+4940A>G | |
| NM_001290096.2:c.-354+4940A>G (TMPRSS4) | NP_001277025.2:n.-354+4940A>G | |
| NM_001394164.1:c.-95+4506T>C (SMIM35) | NP_001381093.1:n.-95+4506T>C | |
| NM_001394165.1:c.7+4506T>C (SMIM35) MANE Select | NP_001381094.1:n.7+4506T>C | |
| NM_001394166.1:c.7+4506T>C (SMIM35) | NP_001381095.1:n.7+4506T>C | |
| NR_110734.2:n.228+4940A>G (TMPRSS4) |