Linked Data
dbSNP Id:
rs551584241
gnomAD v2:
8-87655703-G-C
gnomAD v3:
8-86643475-G-C
gnomAD v4:
8-86643475-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643475G>C , CM000670.2:g.86643475G>C | GRCh38 |
| NC_000008.10:g.87655703G>C , CM000670.1:g.87655703G>C | GRCh37 |
| NC_000008.9:g.87724819G>C | NCBI36 |
| NG_016980.1:g.105201C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1178+276C>G MANE Select | ENSP00000316605.5:n.1178+276C>G | |
| ENST00000681546.1:n.998+276C>G | ||
| ENST00000681746.1:c.1178+276C>G | ENSP00000505959.1:n.1178+276C>G | |
| ENST00000320005.5:c.1178+276C>G | ENSP00000316605.5:n.1178+276C>G | |
| NM_019098.4:c.1178+276C>G | NP_061971.3:n.1178+276C>G | |
| XM_011517138.1:c.764+276C>G | XP_011515440.1:n.764+276C>G | |
| XM_011517138.2:c.764+276C>G | XP_011515440.1:n.764+276C>G | |
| NM_019098.5:c.1178+276C>G MANE Select | NP_061971.3:n.1178+276C>G |