Linked Data
dbSNP Id:
rs754445290
ExAC:
12:76740071 G / T
gnomAD v2:
12-76740071-G-T
gnomAD v4:
12-76346291-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346291G>T , CM000674.2:g.76346291G>T | GRCh38 |
| NC_000012.11:g.76740071G>T , CM000674.1:g.76740071G>T | GRCh37 |
| NC_000012.10:g.75264202G>T | NCBI36 |
| NG_016357.1:g.7152C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.1694C>A MANE Select | ENSP00000497413.1:p.Thr565Lys | |
| ENST00000393262.3:c.1694C>A | ENSP00000376946.3:p.Thr565Lys | |
| NM_024685.3:c.1694C>A | NP_078961.3:p.Thr565Lys | |
| NM_024685.4:c.1694C>A MANE Select | NP_078961.3:p.Thr565Lys |