Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27751035C>G , CM000684.2:g.27751035C>G | GRCh38 |
| NC_000022.10:g.28147023C>G , CM000684.1:g.28147023C>G | GRCh37 |
| NC_000022.9:g.26477023C>G | NCBI36 |
| NG_023258.1:g.55464G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703102.1:n.368G>C | ||
| ENST00000302326.5:c.3843G>C MANE Select | ENSP00000304956.4:p.Leu1281= | |
| ENST00000302326.4:c.3843G>C | ENSP00000304956.4:p.Leu1281= | |
| ENST00000424656.1:c.196G>C | ||
| ENST00000497225.1:n.199G>C | ||
| NM_002430.2:c.3843G>C | NP_002421.3:p.Leu1281= | |
| NM_002430.3:c.3843G>C MANE Select | NP_002421.3:p.Leu1281= |