Linked Data
dbSNP Id:
rs1378439235
gnomAD v2:
16-2036065-A-G
gnomAD v3:
16-1986064-A-G
gnomAD v4:
16-1986064-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986064A>G , CM000678.2:g.1986064A>G | GRCh38 |
| NC_000016.9:g.2036065A>G , CM000678.1:g.2036065A>G | GRCh37 |
| NC_000016.8:g.1976066A>G | NCBI36 |
| NG_016288.1:g.6916A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*36A>G | ENSP00000455885.1:n.*36A>G | |
| ENST00000248114.7:c.*36A>G MANE Select | ENSP00000248114.6:n.*36A>G | |
| ENST00000248114.6:c.*36A>G | ENSP00000248114.6:n.*36A>G | |
| ENST00000565658.1:n.811A>G | ||
| ENST00000567719.1:c.*36A>G | ENSP00000455885.1:n.*36A>G | |
| ENST00000569451.1:c.*127A>G | ENSP00000456432.1:n.*127A>G | |
| NM_005262.2:c.*36A>G | NP_005253.3:n.*36A>G | |
| NM_005262.3:c.*36A>G MANE Select | NP_005253.3:n.*36A>G |