Linked Data
dbSNP Id:
rs200569597
ExAC:
16:67470842 C / T
gnomAD v2:
16-67470842-C-T
gnomAD v3:
16-67436939-C-T
gnomAD v4:
16-67436939-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436939C>T , CM000678.2:g.67436939C>T | GRCh38 |
| NC_000016.9:g.67470842C>T , CM000678.1:g.67470842C>T | GRCh37 |
| NC_000016.8:g.66028343C>T | NCBI36 |
| NG_011482.1:g.49248G>A | |
| NG_016549.1:g.10807C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.1154C>T MANE Select | ENSP00000316786.5:p.Pro385Leu | |
| ENST00000326152.5:c.1154C>T | ENSP00000316786.5:p.Pro385Leu | |
| NM_000196.3:c.1154C>T | NP_000187.3:p.Pro385Leu | |
| NM_000196.4:c.1154C>T MANE Select | NP_000187.3:p.Pro385Leu |