Linked Data
dbSNP Id:
rs778946979
ExAC:
9:133355865 T / G
gnomAD v2:
9-133355865-T-G
gnomAD v3:
9-130480478-T-G
gnomAD v4:
9-130480478-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480478T>G , CM000671.2:g.130480478T>G | GRCh38 |
| NC_000009.11:g.133355865T>G , CM000671.1:g.133355865T>G | GRCh37 |
| NC_000009.10:g.132345686T>G | NCBI36 |
| NG_011542.1:g.40772T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.838+29T>G MANE Select | ENSP00000253004.6:n.838+29T>G | |
| ENST00000352480.9:c.838+29T>G | ENSP00000253004.6:n.838+29T>G | |
| ENST00000372386.6:n.109+29T>G | ||
| ENST00000372393.7:c.838+29T>G | ENSP00000361469.2:n.838+29T>G | |
| ENST00000372394.5:c.838+29T>G | ENSP00000361471.1:n.838+29T>G | |
| ENST00000470849.4:n.563+29T>G | ||
| ENST00000492400.5:n.347+29T>G | ||
| ENST00000493984.6:n.615+29T>G | ||
| NM_000050.4:c.838+29T>G | NP_000041.2:n.838+29T>G | |
| NM_054012.3:c.838+29T>G | NP_446464.1:n.838+29T>G | |
| XM_005272200.2:c.838+29T>G | XP_005272257.1:n.838+29T>G | |
| XM_011518705.1:c.952+29T>G | XP_011517007.1:n.952+29T>G | |
| XM_005272200.3:c.838+29T>G | XP_005272257.1:n.838+29T>G | |
| XM_011518705.2:c.952+29T>G | XP_011517007.1:n.952+29T>G | |
| XM_017014729.1:c.934+29T>G | XP_016870218.1:n.934+29T>G | |
| NM_054012.4:c.838+29T>G MANE Select | NP_446464.1:n.838+29T>G |