Linked Data
dbSNP Id:
rs748856817
ExAC:
10:96708986 T / G
gnomAD v2:
10-96708986-T-G
gnomAD v4:
10-94949229-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949229T>G , CM000672.2:g.94949229T>G | GRCh38 |
| NC_000010.10:g.96708986T>G , CM000672.1:g.96708986T>G | GRCh37 |
| NC_000010.9:g.96698976T>G | NCBI36 |
| NG_008385.1:g.15572T>G | |
| NG_008385.2:g.16072T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.764T>G MANE Select | ENSP00000260682.6:p.Met255Arg | |
| ENST00000643112.1:c.764T>G | ENSP00000496202.1:p.Met255Arg | |
| ENST00000260682.6:c.764T>G | ENSP00000260682.6:p.Met255Arg | |
| ENST00000473496.1:n.535T>G | ||
| NM_000771.3:c.764T>G | NP_000762.2:p.Met255Arg | |
| NM_000771.4:c.764T>G MANE Select | NP_000762.2:p.Met255Arg |