Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993211G>T , CM000678.2:g.30993211G>T | GRCh38 |
| NC_000016.9:g.31004532G>T , CM000678.1:g.31004532G>T | GRCh37 |
| NC_000016.8:g.30912033G>T | NCBI36 |
| NG_041829.1:g.22298C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.705C>A MANE Select | ENSP00000215095.5:p.Asn235Lys | |
| ENST00000565419.2:c.705C>A | ENSP00000455899.1:p.Asn235Lys | |
| ENST00000215095.9:c.705C>A | ENSP00000215095.5:p.Asn235Lys | |
| ENST00000565419.1:c.705C>A | ENSP00000455899.1:p.Asn235Lys | |
| ENST00000569638.5:c.453C>A | ENSP00000457067.1:p.Asn151Lys | |
| NM_052874.4:c.705C>A | NP_443106.1:p.Asn235Lys | |
| XM_017022893.1:c.687C>A | XP_016878382.1:p.Asn229Lys | |
| NM_052874.5:c.705C>A MANE Select | NP_443106.1:p.Asn235Lys |