Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375225G>T , CM000665.2:g.191375225G>T | GRCh38 |
| NC_000003.11:g.191093014G>T , CM000665.1:g.191093014G>T | GRCh37 |
| NC_000003.10:g.192575708G>T | NCBI36 |
| NG_008994.1:g.51141G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.612G>T MANE Select | ENSP00000376249.4:p.Leu204= | |
| ENST00000392456.4:c.449-4934G>T | ENSP00000376250.4:n.449-4934G>T | |
| ENST00000392455.7:c.449-4934G>T | ENSP00000376249.3:n.449-4934G>T | |
| ENST00000392456.3:c.612G>T | ENSP00000376250.3:p.Leu204= | |
| NM_174908.3:c.449-4934G>T | NP_777568.1:n.449-4934G>T | |
| NM_178335.2:c.612G>T | NP_848018.1:p.Leu204= | |
| XM_011512460.1:c.612G>T | XP_011510762.1:p.Leu204= | |
| NM_178335.3:c.612G>T MANE Select | NP_848018.1:p.Leu204= | |
| NM_174908.4:c.449-4934G>T | NP_777568.1:n.449-4934G>T |