Linked Data
dbSNP Id:
rs762842175
ExAC:
16:2035976 T / C
gnomAD v2:
16-2035976-T-C
gnomAD v4:
16-1985975-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985975T>C , CM000678.2:g.1985975T>C | GRCh38 |
| NC_000016.9:g.2035976T>C , CM000678.1:g.2035976T>C | GRCh37 |
| NC_000016.8:g.1975977T>C | NCBI36 |
| NG_016288.1:g.6827T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.340T>C | ENSP00000455885.1:p.Ser114Pro | |
| ENST00000248114.7:c.565T>C MANE Select | ENSP00000248114.6:p.Ser189Pro | |
| ENST00000248114.6:c.565T>C | ENSP00000248114.6:p.Ser189Pro | |
| ENST00000565658.1:n.722T>C | ||
| ENST00000567719.1:c.340T>C | ENSP00000455885.1:p.Ser114Pro | |
| ENST00000569451.1:c.*38T>C | ENSP00000456432.1:n.*38T>C | |
| NM_005262.2:c.565T>C | NP_005253.3:p.Ser189Pro | |
| NM_005262.3:c.565T>C MANE Select | NP_005253.3:p.Ser189Pro |