Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113878452T>G , CM000669.2:g.113878452T>G | GRCh38 |
| NC_000007.13:g.113518507T>G , CM000669.1:g.113518507T>G | GRCh37 |
| NC_000007.12:g.113305743T>G | NCBI36 |
| NG_012116.1:g.45576A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284601.4:c.2640A>C MANE Select | ENSP00000284601.3:p.Arg880Ser | |
| ENST00000284601.3:c.2640A>C | ENSP00000284601.3:p.Arg880Ser | |
| NM_002711.3:c.2640A>C | NP_002702.2:p.Arg880Ser | |
| XM_005250473.2:c.2037A>C | XP_005250530.1:p.Arg679Ser | |
| XM_005250473.3:c.2037A>C | XP_005250530.1:p.Arg679Ser | |
| NM_002711.4:c.2640A>C MANE Select | NP_002702.2:p.Arg880Ser |