Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162277525C>G , CM000664.2:g.162277525C>G | GRCh38 |
| NC_000002.11:g.163134035C>G , CM000664.1:g.163134035C>G | GRCh37 |
| NC_000002.10:g.162842281C>G | NCBI36 |
| NG_011495.1:g.46005G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*1531G>C | ENSP00000513228.1:n.*1531G>C | |
| ENST00000648433.1:c.1817G>C | ENSP00000496816.1:p.Ser606Thr | |
| ENST00000649554.1:n.1544G>C | ||
| ENST00000649979.2:c.1934G>C MANE Select | ENSP00000497271.1:p.Ser645Thr | |
| ENST00000679938.1:c.1622G>C | ENSP00000505518.1:p.Ser541Thr | |
| ENST00000263642.2:c.1934G>C | ENSP00000263642.2:p.Ser645Thr | |
| NM_022168.3:c.1934G>C | NP_071451.2:p.Ser645Thr | |
| XM_011511628.1:c.1217G>C | XP_011509930.1:p.Ser406Thr | |
| NM_022168.4:c.1934G>C MANE Select | NP_071451.2:p.Ser645Thr |