Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33986304C>G , CM000667.2:g.33986304C>G | GRCh38 |
| NC_000005.9:g.33986409C>G , CM000667.1:g.33986409C>G | GRCh37 |
| NC_000005.8:g.34022166C>G | NCBI36 |
| NG_011691.2:g.3372G>C | |
| NG_016211.1:g.26812G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014324.6:c.*2789G>C MANE Select | NP_055139.4:n.*2789G>C |
| ENST00000335606.11:c.*2789G>C MANE Select | ENSP00000334424.6:n.*2789G>C |
| NM_203382.3:c.*3180G>C | NP_976316.1:n.*3180G>C |
| ENST00000335606.10:c.*2789G>C | ENSP00000334424.6:n.*2789G>C |