Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79921666G>T , CM000668.2:g.79921666G>T | GRCh38 |
| NC_000006.11:g.80631383G>T , CM000668.1:g.80631383G>T | GRCh37 |
| NC_000006.10:g.80688102G>T | NCBI36 |
| NG_009108.1:g.30933C>A | |
| NG_009108.2:g.30933C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.500C>A MANE Select | ENSP00000358831.4:p.Thr167Asn | |
| ENST00000369816.4:c.500C>A | ENSP00000358831.4:p.Thr167Asn | |
| NM_022726.3:c.500C>A | NP_073563.1:p.Thr167Asn | |
| NM_022726.4:c.500C>A MANE Select | NP_073563.1:p.Thr167Asn |