Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162272378G>T , CM000664.2:g.162272378G>T | GRCh38 |
| NC_000002.11:g.163128888G>T , CM000664.1:g.163128888G>T | GRCh37 |
| NC_000002.10:g.162837134G>T | NCBI36 |
| NG_011495.1:g.51152C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022168.4:c.2464C>A MANE Select | NP_071451.2:p.Arg822= |
| ENST00000649979.2:c.2464C>A MANE Select | ENSP00000497271.1:p.Arg822= |
| NM_022168.3:c.2464C>A | NP_071451.2:p.Arg822= |
| ENST00000263642.2:c.2464C>A | ENSP00000263642.2:p.Arg822= |
| ENST00000648433.1:c.2347C>A | ENSP00000496816.1:p.Arg783= |
| ENST00000649554.1:n.2074C>A | |
| ENST00000679938.1:c.2152C>A | ENSP00000505518.1:p.Arg718= |
| ENST00000697291.1:c.*2061C>A | ENSP00000513228.1:n.*2061C>A |
| XM_011511628.1:c.1747C>A | XP_011509930.1:p.Arg583= |