| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23402473C>T , CM000676.2:g.23402473C>T | GRCh38 |
| NC_000014.8:g.23871682C>T , CM000676.1:g.23871682C>T | GRCh37 |
| NC_000014.7:g.22941522C>T | NCBI36 |
| NG_023444.1:g.10805G>A , LRG_389:g.10805G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.1132G>A MANE Select | NP_002462.2:p.Gly378Ser |
| ENST00000405093.9:c.1132G>A MANE Select | ENSP00000386041.3:p.Gly378Ser |
| NM_002471.3:c.1132G>A , LRG_389t1:c.1132G>A | NP_002462.2:p.Gly378Ser |
| ENST00000356287.3:c.1132G>A | ENSP00000348634.3:p.Gly378Ser |
| ENST00000405093.7:c.1132G>A | ENSP00000386041.3:p.Gly378Ser |
| ENST00000557461.1:n.1186G>A | |
| ENST00000557461.2:n.1199G>A |