Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111450A>G , CM000670.2:g.118111450A>G | GRCh38 |
| NC_000008.10:g.119123689A>G , CM000670.1:g.119123689A>G | GRCh37 |
| NC_000008.9:g.119192870A>G | NCBI36 |
| NG_007455.2:g.5370T>C , LRG_493:g.5370T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-404T>C MANE Select | ENSP00000367446.3:n.-404T>C | |
| ENST00000378204.6:c.-404T>C | ENSP00000367446.2:n.-404T>C | |
| NM_000127.2:c.-404T>C , LRG_493t1:c.-404T>C | NP_000118.2:n.-404T>C | |
| NM_000127.3:c.-404T>C MANE Select | NP_000118.2:n.-404T>C |