Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111315C>G , CM000670.2:g.118111315C>G | GRCh38 |
| NC_000008.10:g.119123554C>G , CM000670.1:g.119123554C>G | GRCh37 |
| NC_000008.9:g.119192735C>G | NCBI36 |
| NG_007455.2:g.5505G>C , LRG_493:g.5505G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-269G>C MANE Select | ENSP00000367446.3:n.-269G>C | |
| ENST00000378204.6:c.-269G>C | ENSP00000367446.2:n.-269G>C | |
| ENST00000437196.1:c.-269G>C | ENSP00000407299.1:n.-269G>C | |
| NM_000127.2:c.-269G>C , LRG_493t1:c.-269G>C | NP_000118.2:n.-269G>C | |
| NM_000127.3:c.-269G>C MANE Select | NP_000118.2:n.-269G>C |