Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41925247A>G , CM000684.2:g.41925247A>G | GRCh38 |
| NC_000022.10:g.42321251A>G , CM000684.1:g.42321251A>G | GRCh37 |
| NC_000022.9:g.40651197A>G | NCBI36 |
| NG_007579.1:g.6571T>C , LRG_184:g.6571T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052945.4:c.*120T>C MANE Select | NP_443177.1:n.*120T>C |
| ENST00000291232.5:c.*120T>C MANE Select | ENSP00000291232.3:n.*120T>C |
| NM_052945.3:c.*120T>C , LRG_184t1:c.*120T>C | NP_443177.1:n.*120T>C |
| ENST00000291232.4:c.*120T>C | ENSP00000291232.3:n.*120T>C |