Linked Data
dbSNP Id:
rs750234939
ExAC:
16:2036027 T / C
gnomAD v2:
16-2036027-T-C
gnomAD v3:
16-1986026-T-C
gnomAD v4:
16-1986026-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986026T>C , CM000678.2:g.1986026T>C | GRCh38 |
| NC_000016.9:g.2036027T>C , CM000678.1:g.2036027T>C | GRCh37 |
| NC_000016.8:g.1976028T>C | NCBI36 |
| NG_016288.1:g.6878T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.391T>C | ENSP00000455885.1:p.Ter131Gln | |
| ENST00000248114.7:c.616T>C MANE Select | ENSP00000248114.6:p.Ter206Gln | |
| ENST00000248114.6:c.616T>C | ENSP00000248114.6:p.Ter206Gln | |
| ENST00000565658.1:n.773T>C | ||
| ENST00000567719.1:c.391T>C | ENSP00000455885.1:p.Ter131Gln | |
| ENST00000569451.1:c.*89T>C | ENSP00000456432.1:n.*89T>C | |
| NM_005262.2:c.616T>C | NP_005253.3:p.Ter206Gln | |
| NM_005262.3:c.616T>C MANE Select | NP_005253.3:p.Ter206Gln |