Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709629G>C , CM000663.2:g.114709629G>C | GRCh38 |
| NC_000001.10:g.115252250G>C , CM000663.1:g.115252250G>C | GRCh37 |
| NC_000001.9:g.115053773G>C | NCBI36 |
| NG_007572.1:g.12266C>G , LRG_92:g.12266C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.390C>G MANE Select | ENSP00000358548.4:p.Ala130= | |
| ENST00000369535.4:c.390C>G | ENSP00000358548.4:p.Ala130= | |
| NM_002524.4:c.390C>G | NP_002515.1:p.Ala130= | |
| NM_002524.5:c.390C>G MANE Select | NP_002515.1:p.Ala130= |