Linked Data
dbSNP Id:
rs761687015
ExAC:
16:2036019 C / G
gnomAD v2:
16-2036019-C-G
gnomAD v4:
16-1986018-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986018C>G , CM000678.2:g.1986018C>G | GRCh38 |
| NC_000016.9:g.2036019C>G , CM000678.1:g.2036019C>G | GRCh37 |
| NC_000016.8:g.1976020C>G | NCBI36 |
| NG_016288.1:g.6870C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.383C>G | ENSP00000455885.1:p.Ser128Cys | |
| ENST00000248114.7:c.608C>G MANE Select | ENSP00000248114.6:p.Ser203Cys | |
| ENST00000248114.6:c.608C>G | ENSP00000248114.6:p.Ser203Cys | |
| ENST00000565658.1:n.765C>G | ||
| ENST00000567719.1:c.383C>G | ENSP00000455885.1:p.Ser128Cys | |
| ENST00000569451.1:c.*81C>G | ENSP00000456432.1:n.*81C>G | |
| NM_005262.2:c.608C>G | NP_005253.3:p.Ser203Cys | |
| NM_005262.3:c.608C>G MANE Select | NP_005253.3:p.Ser203Cys |