Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152760411T>C , CM000663.2:g.152760411T>C | GRCh38 |
| NC_000001.10:g.152732887T>C , CM000663.1:g.152732887T>C | GRCh37 |
| NC_000001.9:g.150999511T>C | NCBI36 |
| NG_051190.1:g.7382T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606109.2:c.823T>C MANE Select | ENSP00000475216.1:p.Phe275Leu | |
| ENST00000606109.1:c.823T>C | ENSP00000475216.1:p.Phe275Leu | |
| NM_001025231.1:c.823T>C | NP_001020402.1:p.Phe275Leu | |
| XM_011509571.1:c.823T>C | XP_011507873.1:p.Phe275Leu | |
| NM_001025231.2:c.823T>C | NP_001020402.1:p.Phe275Leu | |
| NM_001025231.3:c.823T>C MANE Select | NP_001020402.1:p.Phe275Leu |