Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50523567A>C , CM000684.2:g.50523567A>C | GRCh38 |
| NC_000022.10:g.50961996A>C , CM000684.1:g.50961996A>C | GRCh37 |
| NC_000022.9:g.49308862A>C | NCBI36 |
| NG_016235.1:g.7873T>G | |
| NG_021419.1:g.20352A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420993.7:c.*192A>C MANE Select | ENSP00000410088.2:n.*192A>C | |
| NM_001185011.1:c.*192A>C | NP_001171940.1:n.*192A>C | |
| NM_152299.3:c.*192A>C | NP_689512.2:n.*192A>C | |
| XR_001755232.1:n.2220A>C | ||
| NM_152299.4:c.*192A>C MANE Select | NP_689512.2:n.*192A>C | |
| NM_001185011.2:c.*192A>C | NP_001171940.1:n.*192A>C |