Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131877132G>T , CM000668.2:g.131877132G>T | GRCh38 |
| NC_000006.11:g.132198272G>T , CM000668.1:g.132198272G>T | GRCh37 |
| NC_000006.10:g.132239965G>T | NCBI36 |
| NG_008206.1:g.74117G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683687.1:n.736G>T | ||
| ENST00000684536.1:n.362G>T | ||
| ENST00000647893.1:c.1864G>T MANE Select | ENSP00000498074.1:p.Asp622Tyr | |
| ENST00000647981.1:n.549G>T | ||
| ENST00000650437.1:c.1355G>T | ||
| ENST00000360971.6:c.1864G>T | ENSP00000354238.2:p.Asp622Tyr | |
| ENST00000459624.1:n.908G>T | ||
| ENST00000513998.5:c.*701G>T | ENSP00000422424.1:n.*701G>T | |
| NM_006208.2:c.1864G>T | NP_006199.2:p.Asp622Tyr | |
| XM_011535896.1:c.754G>T | XP_011534198.1:p.Asp252Tyr | |
| NM_006208.3:c.1864G>T MANE Select | NP_006199.2:p.Asp622Tyr |