Linked Data
dbSNP Id:
rs1805539
gnomAD v2:
12-13770190-G-C
gnomAD v3:
12-13617256-G-C
gnomAD v4:
12-13617256-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13617256G>C , CM000674.2:g.13617256G>C | GRCh38 |
| NC_000012.11:g.13770190G>C , CM000674.1:g.13770190G>C | GRCh37 |
| NC_000012.10:g.13661457G>C | NCBI36 |
| NG_031854.1:g.367833C>G | |
| NG_031854.2:g.369757C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.1126-599C>G MANE Select | ENSP00000477455.1:n.1126-599C>G | |
| ENST00000630791.2:c.1126-599C>G | ENSP00000486677.2:n.1126-599C>G | |
| ENST00000609686.3:c.1126-599C>G | ENSP00000477455.1:n.1126-599C>G | |
| NM_000834.3:c.1126-599C>G | NP_000825.2:n.1126-599C>G | |
| XM_011520628.1:c.1126-599C>G | XP_011518930.1:n.1126-599C>G | |
| XM_011520629.1:c.1126-599C>G | XP_011518931.1:n.1126-599C>G | |
| XM_011520630.1:c.1126-599C>G | XP_011518932.1:n.1126-599C>G | |
| XR_931372.1:n.307+2030G>C | ||
| XR_931373.1:n.447+2030G>C | ||
| XR_931374.1:n.246+2030G>C | ||
| NM_000834.4:c.1126-599C>G | NP_000825.2:n.1126-599C>G | |
| XM_011520628.2:c.1126-599C>G | XP_011518930.1:n.1126-599C>G | |
| XM_011520629.2:c.1126-599C>G | XP_011518931.1:n.1126-599C>G | |
| XM_017019219.2:c.1126-599C>G | XP_016874708.1:n.1126-599C>G | |
| XR_001749013.1:n.728+2030G>C | ||
| XR_931372.2:n.444+2030G>C | ||
| XR_931373.2:n.586+2030G>C | ||
| NM_000834.5:c.1126-599C>G MANE Select | NP_000825.2:n.1126-599C>G |