Linked Data
dbSNP Id:
rs550931031
gnomAD v2:
8-10480043-G-C
gnomAD v3:
8-10622533-G-C
gnomAD v4:
8-10622533-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622533G>C , CM000670.2:g.10622533G>C | GRCh38 |
| NC_000008.10:g.10480043G>C , CM000670.1:g.10480043G>C | GRCh37 |
| NC_000008.9:g.10517453G>C | NCBI36 |
| NG_028035.1:g.37575C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.609+60C>G MANE Select | ENSP00000371923.3:n.609+60C>G | |
| ENST00000329335.3:n.859+60C>G | ||
| ENST00000382483.3:c.609+60C>G | ENSP00000371923.3:n.609+60C>G | |
| NM_178857.5:c.609+60C>G | NP_849188.4:n.609+60C>G | |
| NM_178857.6:c.609+60C>G MANE Select | NP_849188.4:n.609+60C>G |