Linked Data
dbSNP Id:
rs11225161
gnomAD v2:
11-102070494-C-T
gnomAD v3:
11-102199763-C-T
gnomAD v4:
11-102199763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102199763C>T , CM000673.2:g.102199763C>T | GRCh38 |
| NC_000011.9:g.102070494C>T , CM000673.1:g.102070494C>T | GRCh37 |
| NC_000011.8:g.101575704C>T | NCBI36 |
| NG_029530.1:g.94303C>T | |
| NG_029530.2:g.94303C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282441.10:c.803-6130C>T MANE Select | ENSP00000282441.5:n.803-6130C>T | |
| ENST00000282441.9:c.803-6130C>T | ENSP00000282441.5:n.803-6130C>T | |
| ENST00000345877.6:c.689-6130C>T | ENSP00000331023.4:n.689-6130C>T | |
| ENST00000524575.5:c.269-6130C>T | ENSP00000435602.1:n.269-6130C>T | |
| ENST00000526343.5:c.689-6130C>T | ENSP00000434134.1:n.689-6130C>T | |
| ENST00000529029.1:c.52-6130C>T | ||
| ENST00000531439.5:c.803-6130C>T | ENSP00000431574.1:n.803-6130C>T | |
| ENST00000537274.5:c.803-6130C>T | ENSP00000445635.1:n.803-6130C>T | |
| ENST00000615667.4:c.803-6130C>T | ENSP00000478927.1:n.803-6130C>T | |
| ENST00000629586.2:c.689-6130C>T | ENSP00000487519.1:n.689-6130C>T | |
| NM_001130145.2:c.803-6130C>T | NP_001123617.1:n.803-6130C>T | |
| NM_001195044.1:c.803-6130C>T | NP_001181973.1:n.803-6130C>T | |
| NM_001195045.1:c.269-6130C>T | NP_001181974.1:n.269-6130C>T | |
| NM_001282097.1:c.689-6130C>T | NP_001269026.1:n.689-6130C>T | |
| NM_001282098.1:c.689-6130C>T | NP_001269027.1:n.689-6130C>T | |
| NM_001282099.1:c.689-6130C>T | NP_001269028.1:n.689-6130C>T | |
| NM_001282100.1:c.803-6130C>T | NP_001269029.1:n.803-6130C>T | |
| NM_001282101.1:c.803-6130C>T | NP_001269030.1:n.803-6130C>T | |
| NM_006106.4:c.689-6130C>T | NP_006097.2:n.689-6130C>T | |
| XM_005271378.2:c.809-6130C>T | XP_005271435.1:n.809-6130C>T | |
| XM_005271380.2:c.809-6130C>T | XP_005271437.1:n.809-6130C>T | |
| XM_005271381.2:c.809-6130C>T | XP_005271438.1:n.809-6130C>T | |
| XM_005271383.2:c.809-6130C>T | XP_005271440.1:n.809-6130C>T | |
| XM_011542555.1:c.275-6130C>T | XP_011540857.1:n.275-6130C>T | |
| XM_011542556.1:c.269-6130C>T | XP_011540858.1:n.269-6130C>T | |
| XM_005271378.3:c.809-6130C>T | XP_005271435.1:n.809-6130C>T | |
| XM_005271380.3:c.809-6130C>T | XP_005271437.1:n.809-6130C>T | |
| XM_005271381.3:c.809-6130C>T | XP_005271438.1:n.809-6130C>T | |
| XM_005271383.3:c.809-6130C>T | XP_005271440.1:n.809-6130C>T | |
| XM_011542555.2:c.275-6130C>T | XP_011540857.1:n.275-6130C>T | |
| XM_011542556.2:c.269-6130C>T | XP_011540858.1:n.269-6130C>T | |
| XM_017017093.1:c.269-6130C>T | XP_016872582.1:n.269-6130C>T | |
| NM_001130145.3:c.803-6130C>T MANE Select | NP_001123617.1:n.803-6130C>T | |
| NM_001195044.2:c.803-6130C>T | NP_001181973.1:n.803-6130C>T | |
| NM_001195045.2:c.269-6130C>T | NP_001181974.1:n.269-6130C>T | |
| NM_001282097.2:c.689-6130C>T | NP_001269026.1:n.689-6130C>T | |
| NM_001282098.2:c.689-6130C>T | NP_001269027.1:n.689-6130C>T | |
| NM_006106.5:c.689-6130C>T | NP_006097.2:n.689-6130C>T | |
| NM_001282099.2:c.689-6130C>T | NP_001269028.1:n.689-6130C>T | |
| NM_001282100.2:c.803-6130C>T | NP_001269029.1:n.803-6130C>T | |
| NM_001282101.2:c.803-6130C>T | NP_001269030.1:n.803-6130C>T |