Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713946A>G , CM000663.2:g.114713946A>G | GRCh38 |
| NC_000001.10:g.115256567A>G , CM000663.1:g.115256567A>G | GRCh37 |
| NC_000001.9:g.115058090A>G | NCBI36 |
| NG_007572.1:g.7949T>C , LRG_92:g.7949T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.144T>C MANE Select | ENSP00000358548.4:p.Gly48= | |
| ENST00000369535.4:c.144T>C | ENSP00000358548.4:p.Gly48= | |
| NM_002524.4:c.144T>C | NP_002515.1:p.Gly48= | |
| NM_002524.5:c.144T>C MANE Select | NP_002515.1:p.Gly48= |