Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377355G>C , CM000664.2:g.202377355G>C | GRCh38 |
| NC_000002.11:g.203242078G>C , CM000664.1:g.203242078G>C | GRCh37 |
| NC_000002.10:g.202950323G>C | NCBI36 |
| NG_009363.1:g.6029G>C , LRG_712:g.6029G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.-120G>C MANE Select | ENSP00000363708.4:n.-120G>C | |
| ENST00000374580.8:c.-120G>C | ENSP00000363708.4:n.-120G>C | |
| NM_001204.6:c.-120G>C , LRG_712t1:c.-120G>C | NP_001195.2:n.-120G>C | |
| XM_011511687.1:c.-120G>C | XP_011509989.1:n.-120G>C | |
| XM_011511688.1:c.-120G>C | XP_011509990.1:n.-120G>C | |
| NM_001204.7:c.-120G>C MANE Select | NP_001195.2:n.-120G>C |