Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42839249G>T , CM000670.2:g.42839249G>T | GRCh38 |
| NC_000008.10:g.42694392G>T , CM000670.1:g.42694392G>T | GRCh37 |
| NC_000008.9:g.42813549G>T | NCBI36 |
| NG_011837.1:g.9083C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254250.7:c.204C>A MANE Select | ENSP00000254250.3:p.Asn68Lys | |
| ENST00000345117.2:c.72-913C>A | ENSP00000344966.2:n.72-913C>A | |
| ENST00000529779.1:c.204C>A | ENSP00000433912.1:p.Asn68Lys | |
| ENST00000532093.1:n.434C>A | ||
| NM_018105.2:c.204C>A | NP_060575.1:p.Asn68Lys | |
| NM_199003.1:c.72-913C>A | NP_945354.1:n.72-913C>A | |
| NM_018105.3:c.204C>A MANE Select | NP_060575.1:p.Asn68Lys | |
| NM_199003.2:c.72-913C>A | NP_945354.1:n.72-913C>A |