Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830832G>C , CM000673.2:g.116830832G>C | GRCh38 |
| NC_000011.9:g.116701548G>C , CM000673.1:g.116701548G>C | GRCh37 |
| NC_000011.8:g.116206758G>C | NCBI36 |
| NG_008949.1:g.5925G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.115G>C MANE Select | ENSP00000227667.2:p.Ala39Pro | |
| ENST00000227667.7:c.115G>C | ENSP00000227667.2:p.Ala39Pro | |
| ENST00000375345.3:c.169G>C | ENSP00000364494.1:p.Ala57Pro | |
| ENST00000433777.5:c.115G>C | ENSP00000410614.1:p.Ala39Pro | |
| ENST00000470144.1:n.147G>C | ||
| ENST00000630701.1:c.169G>C | ENSP00000486182.1:p.Ala57Pro | |
| NM_000040.1:c.115G>C | NP_000031.1:p.Ala39Pro | |
| NM_000040.2:c.115G>C | NP_000031.1:p.Ala39Pro | |
| NM_000040.3:c.115G>C MANE Select | NP_000031.1:p.Ala39Pro |