Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10455003C>G , CM000680.2:g.10455003C>G | GRCh38 |
| NC_000018.9:g.10455000C>G , CM000680.1:g.10455000C>G | GRCh37 |
| NC_000018.8:g.10445000C>G | NCBI36 |
| NG_027685.1:g.5376C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355285.10:c.22C>G MANE Select | ENSP00000347433.4:p.Leu8Val | |
| ENST00000355285.9:c.22C>G | ENSP00000347433.4:p.Leu8Val | |
| ENST00000423585.2:c.22C>G | ENSP00000404930.2:p.Leu8Val | |
| ENST00000578882.1:c.22C>G | ENSP00000463104.1:p.Leu8Val | |
| ENST00000582723.1:c.22C>G | ENSP00000463110.1:p.Leu8Val | |
| NM_153000.4:c.22C>G | NP_694545.1:p.Leu8Val | |
| XM_011525603.1:c.22C>G | XP_011523905.1:p.Leu8Val | |
| XM_011525603.2:c.22C>G | XP_011523905.1:p.Leu8Val | |
| NM_153000.5:c.22C>G MANE Select | NP_694545.1:p.Leu8Val |