Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.13814315G>C , CM000668.2:g.13814315G>C | GRCh38 |
| NC_000006.11:g.13814547G>C , CM000668.1:g.13814547G>C | GRCh37 |
| NC_000006.10:g.13922526G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001031713.4:c.115C>G MANE Select | NP_001026883.1:p.Arg39Gly |
| ENST00000379170.9:c.115C>G MANE Select | ENSP00000368468.3:p.Arg39Gly |
| NM_001031713.3:c.115C>G | NP_001026883.1:p.Arg39Gly |
| ENST00000379170.8:c.115C>G | ENSP00000368468.3:p.Arg39Gly |
| ENST00000488770.1:c.115C>G | ENSP00000476162.1:p.Arg39Gly |
| XM_011514802.1:c.115C>G | XP_011513104.1:p.Arg39Gly |
| XR_001743579.2:n.249C>G | |
| XR_001743580.1:n.680C>G | |
| XR_001743986.2:n.280+226G>C |