Linked Data
gnomAD v4:
X-46837123-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46837123G>T , CM000685.2:g.46837123G>T | GRCh38 |
| NC_000023.10:g.46696558G>T , CM000685.1:g.46696558G>T | GRCh37 |
| NC_000023.9:g.46581502G>T | NCBI36 |
| NG_009107.1:g.5212G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.23G>T MANE Select | ENSP00000218340.3:p.Arg8Ile | |
| ENST00000218340.3:c.23G>T | ENSP00000218340.3:p.Arg8Ile | |
| NM_006915.2:c.23G>T | NP_008846.2:p.Arg8Ile | |
| NM_006915.3:c.23G>T MANE Select | NP_008846.2:p.Arg8Ile |