Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162268230G>C , CM000664.2:g.162268230G>C | GRCh38 |
| NC_000002.11:g.163124740G>C , CM000664.1:g.163124740G>C | GRCh37 |
| NC_000002.10:g.162832986G>C | NCBI36 |
| NG_011495.1:g.55300C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022168.4:c.2664C>G MANE Select | NP_071451.2:p.Thr888= |
| ENST00000649979.2:c.2664C>G MANE Select | ENSP00000497271.1:p.Thr888= |
| NM_022168.3:c.2664C>G | NP_071451.2:p.Thr888= |
| ENST00000263642.2:c.2664C>G | ENSP00000263642.2:p.Thr888= |
| ENST00000648433.1:c.2547C>G | ENSP00000496816.1:p.Thr849= |
| ENST00000649554.1:n.2274C>G | |
| ENST00000679938.1:c.2352C>G | ENSP00000505518.1:p.Thr784= |
| ENST00000697291.1:c.*2261C>G | ENSP00000513228.1:n.*2261C>G |
| XM_011511628.1:c.1947C>G | XP_011509930.1:p.Thr649= |