Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138946887G>T , CM000667.2:g.138946887G>T | GRCh38 |
| NC_000005.9:g.138282576G>T , CM000667.1:g.138282576G>T | GRCh37 |
| NC_000005.8:g.138310475G>T | NCBI36 |
| NG_008112.1:g.256490C>A | |
| NG_008112.2:g.256490C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.*230C>A MANE Select | ENSP00000378294.2:n.*230C>A | |
| ENST00000265195.9:c.*230C>A | ENSP00000265195.5:n.*230C>A | |
| ENST00000394817.6:c.*230C>A | ENSP00000378294.2:n.*230C>A | |
| NM_001037633.1:c.*230C>A | NP_001032722.1:n.*230C>A | |
| NM_022464.4:c.*230C>A | NP_071909.1:n.*230C>A | |
| XM_011543570.2:c.*230C>A | XP_011541872.1:n.*230C>A | |
| XM_024446164.1:c.*230C>A | XP_024301932.1:n.*230C>A | |
| NM_022464.5:c.*230C>A MANE Select | NP_071909.1:n.*230C>A | |
| NM_001037633.2:c.*230C>A | NP_001032722.1:n.*230C>A |