Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88627240C>G , CM000664.2:g.88627240C>G | GRCh38 |
| NC_000002.11:g.88926758C>G , CM000664.1:g.88926758C>G | GRCh37 |
| NC_000002.10:g.88707873C>G | NCBI36 |
| NG_016424.1:g.5337G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004836.7:c.35G>C MANE Select | NP_004827.4:p.Arg12Pro |
| ENST00000303236.9:c.35G>C MANE Select | ENSP00000307235.3:p.Arg12Pro |
| NM_004836.5:c.35G>C | NP_004827.4:p.Arg12Pro |
| NM_004836.6:c.35G>C | NP_004827.4:p.Arg12Pro |
| ENST00000303236.7:c.35G>C | ENSP00000307235.3:p.Arg12Pro |
| ENST00000652099.1:c.33G>C | |
| ENST00000652423.1:c.35G>C | ENSP00000498948.1:p.Arg12Pro |
| ENST00000682892.1:c.-145-13387G>C | ENSP00000507214.1:n.-145-13387G>C |
| XM_017005376.2:c.-846G>C | XP_016860865.1:n.-846G>C |
| XR_939749.1:n.244G>C |