Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58280375C>G , CM000679.2:g.58280375C>G | GRCh38 |
| NC_000017.10:g.56357736C>G , CM000679.1:g.56357736C>G | GRCh37 |
| NC_000017.9:g.53712735C>G | NCBI36 |
| NG_009629.1:g.5561G>C , LRG_84:g.5561G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225275.4:c.239G>C MANE Select | ENSP00000225275.3:p.Arg80Pro | |
| ENST00000225275.3:c.239G>C | ENSP00000225275.3:p.Arg80Pro | |
| ENST00000580005.1:n.168G>C | ||
| NM_000250.1:c.239G>C , LRG_84t1:c.239G>C | NP_000241.1:p.Arg80Pro | |
| XM_011524821.1:c.425G>C | XP_011523123.1:p.Arg142Pro | |
| XM_011524822.1:c.-38+230G>C | XP_011523124.1:n.-38+230G>C | |
| XM_011524823.1:c.425G>C | XP_011523125.1:p.Arg142Pro | |
| NM_000250.2:c.239G>C MANE Select | NP_000241.1:p.Arg80Pro |