Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6870676C>G , CM000670.2:g.6870676C>G | GRCh38 |
| NC_000008.10:g.6728198C>G , CM000670.1:g.6728198C>G | GRCh37 |
| NC_000008.9:g.6715608C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005218.4:c.*5G>C MANE Select | NP_005209.1:n.*5G>C |
| ENST00000297439.4:c.*5G>C MANE Select | ENSP00000297439.3:n.*5G>C |
| NM_005218.3:c.*5G>C | NP_005209.1:n.*5G>C |
| ENST00000297439.3:c.*5G>C | ENSP00000297439.3:n.*5G>C |