Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256273T>A , CM000679.2:g.34256273T>A | GRCh38 |
| NC_000017.10:g.32583292T>A , CM000679.1:g.32583292T>A | GRCh37 |
| NC_000017.9:g.29607405T>A | NCBI36 |
| NG_012123.1:g.5997T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.128T>A | ENSP00000462156.1:p.Ile43Asn | |
| ENST00000624362.2:n.989T>A | ||
| ENST00000225831.4:c.128T>A MANE Select | ENSP00000225831.4:p.Ile43Asn | |
| ENST00000580907.5:c.128T>A | ENSP00000462156.1:p.Ile43Asn | |
| ENST00000582017.1:n.66T>A | ||
| NM_002982.3:c.128T>A | NP_002973.1:p.Ile43Asn | |
| NM_002982.4:c.128T>A MANE Select | NP_002973.1:p.Ile43Asn |