Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18389005G>C , CM000681.2:g.18389005G>C | GRCh38 |
| NC_000019.9:g.18499815G>C , CM000681.1:g.18499815G>C | GRCh37 |
| NC_000019.8:g.18360815G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004864.4:c.*70G>C MANE Select | NP_004855.2:n.*70G>C |
| ENST00000252809.3:c.*70G>C MANE Select | ENSP00000252809.3:n.*70G>C |
| NM_004864.2:c.*70G>C | NP_004855.2:n.*70G>C |
| NM_004864.3:c.*70G>C | NP_004855.2:n.*70G>C |
| XM_024451789.1:c.*70G>C | XP_024307557.1:n.*70G>C |