Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162272377C>G , CM000664.2:g.162272377C>G | GRCh38 |
| NC_000002.11:g.163128887C>G , CM000664.1:g.163128887C>G | GRCh37 |
| NC_000002.10:g.162837133C>G | NCBI36 |
| NG_011495.1:g.51153G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022168.4:c.2465G>C MANE Select | NP_071451.2:p.Arg822Pro |
| ENST00000649979.2:c.2465G>C MANE Select | ENSP00000497271.1:p.Arg822Pro |
| NM_022168.3:c.2465G>C | NP_071451.2:p.Arg822Pro |
| ENST00000263642.2:c.2465G>C | ENSP00000263642.2:p.Arg822Pro |
| ENST00000648433.1:c.2348G>C | ENSP00000496816.1:p.Arg783Pro |
| ENST00000649554.1:n.2075G>C | |
| ENST00000679938.1:c.2153G>C | ENSP00000505518.1:p.Arg718Pro |
| ENST00000697291.1:c.*2062G>C | ENSP00000513228.1:n.*2062G>C |
| XM_011511628.1:c.1748G>C | XP_011509930.1:p.Arg583Pro |