Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985877A>C , CM000678.2:g.1985877A>C | GRCh38 |
| NC_000016.9:g.2035878A>C , CM000678.1:g.2035878A>C | GRCh37 |
| NC_000016.8:g.1975879A>C | NCBI36 |
| NG_016288.1:g.6729A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.242A>C | ENSP00000455885.1:p.Asn81Thr | |
| ENST00000248114.7:c.467A>C MANE Select | ENSP00000248114.6:p.Asn156Thr | |
| ENST00000248114.6:c.467A>C | ENSP00000248114.6:p.Asn156Thr | |
| ENST00000565658.1:n.624A>C | ||
| ENST00000567719.1:c.242A>C | ENSP00000455885.1:p.Asn81Thr | |
| ENST00000569451.1:c.270A>C | ENSP00000456432.1:p.Glu90Asp | |
| NM_005262.2:c.467A>C | NP_005253.3:p.Asn156Thr | |
| NM_005262.3:c.467A>C MANE Select | NP_005253.3:p.Asn156Thr |