Linked Data
dbSNP Id:
rs781744953
ExAC:
16:67470672 G / C
gnomAD v2:
16-67470672-G-C
gnomAD v3:
16-67436769-G-C
gnomAD v4:
16-67436769-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436769G>C , CM000678.2:g.67436769G>C | GRCh38 |
| NC_000016.9:g.67470672G>C , CM000678.1:g.67470672G>C | GRCh37 |
| NC_000016.8:g.66028173G>C | NCBI36 |
| NG_011482.1:g.49418C>G | |
| NG_016549.1:g.10637G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.984G>C MANE Select | ENSP00000316786.5:p.Ala328= | |
| ENST00000326152.5:c.984G>C | ENSP00000316786.5:p.Ala328= | |
| NM_000196.3:c.984G>C | NP_000187.3:p.Ala328= | |
| NM_000196.4:c.984G>C MANE Select | NP_000187.3:p.Ala328= |