Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251013A>G , CM000664.2:g.96251013A>G | GRCh38 |
| NC_000002.11:g.96916751A>G , CM000664.1:g.96916751A>G | GRCh37 |
| NC_000002.10:g.96280478A>G | NCBI36 |
| NG_027695.1:g.20001T>C , LRG_528:g.20001T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.*2795T>C MANE Select | ENSP00000258439.3:n.*2795T>C | |
| ENST00000258439.7:c.*2795T>C | ENSP00000258439.2:n.*2795T>C | |
| NM_001193304.2:c.*2795T>C | NP_001180233.1:n.*2795T>C | |
| NM_017849.3:c.*2795T>C , LRG_528t1:c.*2795T>C | NP_060319.1:n.*2795T>C | |
| XM_017004450.1:c.*2096T>C | XP_016859939.1:n.*2096T>C | |
| XM_017004452.1:c.*2795T>C | XP_016859941.1:n.*2795T>C | |
| NM_001193304.3:c.*2795T>C | NP_001180233.1:n.*2795T>C | |
| NM_017849.4:c.*2795T>C MANE Select | NP_060319.1:n.*2795T>C |