Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993065C>G , CM000667.2:g.177993065C>G | GRCh38 |
| NC_000005.9:g.177420066C>G , CM000667.1:g.177420066C>G | GRCh37 |
| NC_000005.8:g.177352672C>G | NCBI36 |
| NG_015889.1:g.8178G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.343-18G>C MANE Select | ENSP00000311290.2:n.343-18G>C | |
| NM_006261.4:c.343-18G>C | NP_006252.3:n.343-18G>C | |
| NM_006261.5:c.343-18G>C MANE Select | NP_006252.4:n.343-18G>C |