Linked Data
gnomAD v4:
4-67740571-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740571C>G , CM000666.2:g.67740571C>G | GRCh38 |
| NC_000004.11:g.68606289C>G , CM000666.1:g.68606289C>G | GRCh37 |
| NC_000004.10:g.68288884C>G | NCBI36 |
| NG_009293.1:g.20516G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.896G>C MANE Select | ENSP00000226413.5:p.Arg299Thr | |
| ENST00000226413.4:c.896G>C | ENSP00000226413.4:p.Arg299Thr | |
| ENST00000420975.2:c.768G>C | ENSP00000397561.2:n.768G>C | |
| NM_000406.2:c.896G>C | NP_000397.1:p.Arg299Thr | |
| NM_001012763.1:c.*18G>C | NP_001012781.1:n.*18G>C | |
| NM_000406.3:c.896G>C MANE Select | NP_000397.1:p.Arg299Thr | |
| NM_001012763.2:c.*18G>C | NP_001012781.1:n.*18G>C |