Linked Data
gnomAD v4:
8-19955880-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19955880T>G , CM000670.2:g.19955880T>G | GRCh38 |
| NC_000008.10:g.19813391T>G , CM000670.1:g.19813391T>G | GRCh37 |
| NC_000008.9:g.19857671T>G | NCBI36 |
| NG_008855.1:g.21810T>G | |
| NG_008855.2:g.59164T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.815T>G MANE Select | ENSP00000497642.1:p.Ile272Ser | |
| ENST00000311322.8:c.815T>G | ENSP00000309757.6:p.Ile272Ser | |
| NM_000237.2:c.815T>G | NP_000228.1:p.Ile272Ser | |
| NM_000237.3:c.815T>G MANE Select | NP_000228.1:p.Ile272Ser |