Linked Data
dbSNP Id:
rs751507043
ExAC:
16:67470160 C / A
gnomAD v2:
16-67470160-C-A
gnomAD v4:
16-67436257-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436257C>A , CM000678.2:g.67436257C>A | GRCh38 |
| NC_000016.9:g.67470160C>A , CM000678.1:g.67470160C>A | GRCh37 |
| NC_000016.8:g.66027661C>A | NCBI36 |
| NG_011482.1:g.49930G>T | |
| NG_016549.1:g.10125C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.673C>A MANE Select | ENSP00000316786.5:p.Pro225Thr | |
| ENST00000326152.5:c.673C>A | ENSP00000316786.5:p.Pro225Thr | |
| ENST00000567684.2:n.536C>A | ||
| NM_000196.3:c.673C>A | NP_000187.3:p.Pro225Thr | |
| NM_000196.4:c.673C>A MANE Select | NP_000187.3:p.Pro225Thr |