Linked Data
dbSNP Id:
rs201959073
ExAC:
16:2035941 T / G
gnomAD v2:
16-2035941-T-G
gnomAD v3:
16-1985940-T-G
gnomAD v4:
16-1985940-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985940T>G , CM000678.2:g.1985940T>G | GRCh38 |
| NC_000016.9:g.2035941T>G , CM000678.1:g.2035941T>G | GRCh37 |
| NC_000016.8:g.1975942T>G | NCBI36 |
| NG_016288.1:g.6792T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.305T>G | ENSP00000455885.1:p.Val102Gly | |
| ENST00000248114.7:c.530T>G MANE Select | ENSP00000248114.6:p.Val177Gly | |
| ENST00000248114.6:c.530T>G | ENSP00000248114.6:p.Val177Gly | |
| ENST00000565658.1:n.687T>G | ||
| ENST00000567719.1:c.305T>G | ENSP00000455885.1:p.Val102Gly | |
| ENST00000569451.1:c.*3T>G | ENSP00000456432.1:n.*3T>G | |
| NM_005262.2:c.530T>G | NP_005253.3:p.Val177Gly | |
| NM_005262.3:c.530T>G MANE Select | NP_005253.3:p.Val177Gly |