Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26373391G>C , CM000664.2:g.26373391G>C | GRCh38 |
| NC_000002.11:g.26596259G>C , CM000664.1:g.26596259G>C | GRCh37 |
| NC_000002.10:g.26449763G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033505.4:c.335G>C MANE Select | NP_277040.1:p.Arg112Pro |
| ENST00000260585.12:c.335G>C MANE Select | ENSP00000260585.7:p.Arg112Pro |
| NM_033505.2:c.335G>C | NP_277040.1:p.Arg112Pro |
| NM_033505.3:c.335G>C | NP_277040.1:p.Arg112Pro |
| NR_137633.1:n.482G>C | |
| NR_137633.2:n.425G>C | |
| ENST00000260585.11:c.335G>C | ENSP00000260585.7:p.Arg112Pro |
| ENST00000442141.5:c.239G>C | ENSP00000415280.1:p.Arg80Pro |
| ENST00000447170.1:c.310+6171G>C | ENSP00000391804.1:n.310+6171G>C |
| ENST00000613142.4:c.335G>C | ENSP00000479973.1:p.Arg112Pro |