Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156760143C>A , CM000667.2:g.156760143C>A | GRCh38 |
| NC_000005.9:g.156187154C>A , CM000667.1:g.156187154C>A | GRCh37 |
| NC_000005.8:g.156119732C>A | NCBI36 |
| NG_008693.2:g.894801C>A , LRG_205:g.894801C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337851.9:c.*753C>A MANE Select | ENSP00000338343.4:n.*753C>A | |
| ENST00000435422.7:c.*753C>A | ENSP00000403003.2:n.*753C>A | |
| NM_000337.5:c.*753C>A , LRG_205t1:c.*753C>A | NP_000328.2:n.*753C>A | |
| NM_001128209.1:c.*753C>A | NP_001121681.1:n.*753C>A | |
| XM_005265966.3:c.*753C>A | XP_005266023.1:n.*753C>A | |
| XM_006714911.2:c.*753C>A | XP_006714974.1:n.*753C>A | |
| XM_011534621.1:c.*753C>A | XP_011532923.1:n.*753C>A | |
| NM_001128209.2:c.*753C>A | NP_001121681.1:n.*753C>A | |
| NM_000337.6:c.*753C>A MANE Select | NP_000328.2:n.*753C>A |