Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162318068C>G , CM000664.2:g.162318068C>G | GRCh38 |
| NC_000002.11:g.163174578C>G , CM000664.1:g.163174578C>G | GRCh37 |
| NC_000002.10:g.162882824C>G | NCBI36 |
| NG_011495.1:g.5462G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022168.4:c.240G>C MANE Select | NP_071451.2:p.Val80= |
| ENST00000649979.2:c.240G>C MANE Select | ENSP00000497271.1:p.Val80= |
| NM_022168.3:c.240G>C | NP_071451.2:p.Val80= |
| ENST00000263642.2:c.240G>C | ENSP00000263642.2:p.Val80= |
| ENST00000421365.2:c.240G>C | ENSP00000408450.2:p.Val80= |
| ENST00000648433.1:c.240G>C | ENSP00000496816.1:p.Val80= |
| ENST00000679938.1:c.75G>C | ENSP00000505518.1:p.Val25= |
| ENST00000697291.1:c.240G>C | ENSP00000513228.1:p.Val80= |
| XM_011511629.1:c.240G>C | XP_011509931.1:p.Val80= |