Linked Data
dbSNP Id:
rs41276682
gnomAD v2:
12-13767970-G-C
gnomAD v3:
12-13615036-G-C
gnomAD v4:
12-13615036-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13615036G>C , CM000674.2:g.13615036G>C | GRCh38 |
| NC_000012.11:g.13767970G>C , CM000674.1:g.13767970G>C | GRCh37 |
| NC_000012.10:g.13659237G>C | NCBI36 |
| NG_031854.1:g.370053C>G | |
| NG_031854.2:g.371977C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.1654+78C>G MANE Select | ENSP00000477455.1:n.1654+78C>G | |
| ENST00000609686.3:c.1654+78C>G | ENSP00000477455.1:n.1654+78C>G | |
| NM_000834.3:c.1654+78C>G | NP_000825.2:n.1654+78C>G | |
| XM_011520628.1:c.1654+78C>G | XP_011518930.1:n.1654+78C>G | |
| XM_011520629.1:c.1654+78C>G | XP_011518931.1:n.1654+78C>G | |
| XM_011520630.1:c.1654+78C>G | XP_011518932.1:n.1654+78C>G | |
| XR_931372.1:n.179-62G>C | ||
| XR_931373.1:n.319-62G>C | ||
| XR_931374.1:n.118-62G>C | ||
| NM_000834.4:c.1654+78C>G | NP_000825.2:n.1654+78C>G | |
| XM_011520628.2:c.1654+78C>G | XP_011518930.1:n.1654+78C>G | |
| XM_011520629.2:c.1654+78C>G | XP_011518931.1:n.1654+78C>G | |
| XM_017019219.2:c.1654+78C>G | XP_016874708.1:n.1654+78C>G | |
| XR_001749013.1:n.600-62G>C | ||
| XR_931372.2:n.316-62G>C | ||
| XR_931373.2:n.458-62G>C | ||
| NM_000834.5:c.1654+78C>G MANE Select | NP_000825.2:n.1654+78C>G |