Linked Data
dbSNP Id:
rs752318885
ExAC:
8:16850726 C / T
gnomAD v2:
8-16850726-C-T
gnomAD v4:
8-16993217-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993217C>T , CM000670.2:g.16993217C>T | GRCh38 |
| NC_000008.10:g.16850726C>T , CM000670.1:g.16850726C>T | GRCh37 |
| NC_000008.9:g.16895097C>T | NCBI36 |
| NG_015978.1:g.13949G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.491G>A MANE Select | ENSP00000180166.5:p.Arg164Lys | |
| ENST00000180166.5:c.491G>A | ENSP00000180166.5:p.Arg164Lys | |
| ENST00000519941.1:c.195G>A | ||
| NM_019851.2:c.491G>A | NP_062825.1:p.Arg164Lys | |
| NM_019851.3:c.491G>A MANE Select | NP_062825.1:p.Arg164Lys |