Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.143695258C>G , CM000666.2:g.143695258C>G | GRCh38 |
| NC_000004.11:g.144616411C>G , CM000666.1:g.144616411C>G | GRCh37 |
| NC_000004.10:g.144835861C>G | NCBI36 |
| NG_052820.1:g.10418G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329798.5:c.5185+233G>C MANE Select | ENSP00000332886.5:n.5185+233G>C | |
| NM_001168235.1:c.5185+233G>C | NP_001161707.1:n.5185+233G>C | |
| NM_001168235.2:c.5185+233G>C MANE Select | NP_001161707.1:n.5185+233G>C |