Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65239994A>C , CM000674.2:g.65239994A>C | GRCh38 |
| NC_000012.11:g.65633774A>C , CM000674.1:g.65633774A>C | GRCh37 |
| NC_000012.10:g.63920041A>C | NCBI36 |
| NG_016210.1:g.75424A>C | |
| NG_016210.2:g.75424A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1987A>C MANE Select | ENSP00000308369.2:p.Thr663Pro | |
| ENST00000308330.2:c.1987A>C | ENSP00000308369.2:p.Thr663Pro | |
| NM_001167614.1:c.1984A>C | NP_001161086.1:p.Thr662Pro | |
| NM_014319.4:c.1987A>C | NP_055134.2:p.Thr663Pro | |
| NM_014319.5:c.1987A>C MANE Select | NP_055134.2:p.Thr663Pro | |
| NM_001167614.2:c.1984A>C | NP_001161086.1:p.Thr662Pro |