Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483039T>C , CM000673.2:g.67483039T>C | GRCh38 |
| NC_000011.9:g.67250510T>C , CM000673.1:g.67250510T>C | GRCh37 |
| NC_000011.8:g.67007086T>C | NCBI36 |
| NG_008969.1:g.5006T>C , LRG_460:g.5006T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682699.1:c.-120T>C | ENSP00000507935.1:n.-120T>C | |
| ENST00000279146.8:c.-120T>C MANE Select | ENSP00000279146.3:n.-120T>C | |
| NM_001302960.1:c.-120T>C | NP_001289889.1:n.-120T>C | |
| NM_003977.3:c.-120T>C | NP_003968.3:n.-120T>C | |
| XM_024448761.1:c.-120T>C | XP_024304529.1:n.-120T>C | |
| NM_003977.4:c.-120T>C MANE Select | NP_003968.3:n.-120T>C | |
| NM_001302960.2:c.-120T>C | NP_001289889.1:n.-120T>C |