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