Linked Data
gnomAD v4:
2-84425428-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425428G>C , CM000664.2:g.84425428G>C | GRCh38 |
| NC_000002.11:g.84652552G>C , CM000664.1:g.84652552G>C | GRCh37 |
| NC_000002.10:g.84506063G>C | NCBI36 |
| NG_016755.1:g.39035C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.1001C>G MANE Select | ENSP00000377446.2:p.Thr334Ser | |
| ENST00000651342.1:c.*441C>G | ENSP00000498471.1:n.*441C>G | |
| ENST00000393868.6:c.1001C>G | ENSP00000377446.2:p.Thr334Ser | |
| ENST00000484365.1:n.1509C>G | ||
| ENST00000487809.1:n.748C>G | ||
| ENST00000491123.5:n.847C>G | ||
| NM_003849.3:c.1001C>G | NP_003840.2:p.Thr334Ser | |
| NM_003849.4:c.1001C>G MANE Select | NP_003840.2:p.Thr334Ser |