Linked Data
gnomAD v4:
11-102842705-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102842705A>T , CM000673.2:g.102842705A>T | GRCh38 |
| NC_000011.9:g.102713436A>T , CM000673.1:g.102713436A>T | GRCh37 |
| NC_000011.8:g.102218646A>T | NCBI36 |
| NG_012100.1:g.5907T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299855.10:c.317T>A MANE Select | ENSP00000299855.5:p.Ile106Asn | |
| ENST00000299855.9:c.317T>A | ENSP00000299855.5:p.Ile106Asn | |
| ENST00000524478.1:c.*159T>A | ENSP00000435255.1:n.*159T>A | |
| NM_002422.3:c.317T>A | NP_002413.1:p.Ile106Asn | |
| NM_002422.4:c.317T>A | NP_002413.1:p.Ile106Asn | |
| NM_002422.5:c.317T>A MANE Select | NP_002413.1:p.Ile106Asn |