Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16144996G>C , CM000668.2:g.16144996G>C | GRCh38 |
| NC_000006.11:g.16145227G>C , CM000668.1:g.16145227G>C | GRCh37 |
| NC_000006.10:g.16253206G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356840.8:c.927G>C MANE Select | ENSP00000349298.3:p.Lys309Asn | |
| ENST00000349606.4:c.384G>C | ENSP00000008686.5:p.Lys128Asn | |
| ENST00000356840.7:c.927G>C | ENSP00000349298.3:p.Lys309Asn | |
| NM_013262.3:c.927G>C | NP_037394.2:p.Lys309Asn | |
| XM_005249032.2:c.762G>C | XP_005249089.1:p.Lys254Asn | |
| XM_005249033.2:c.384G>C | XP_005249090.1:p.Lys128Asn | |
| XM_005249033.3:c.384G>C | XP_005249090.1:p.Lys128Asn | |
| XM_017010789.1:c.927G>C | XP_016866278.1:p.Lys309Asn | |
| NM_013262.4:c.927G>C MANE Select | NP_037394.2:p.Lys309Asn |