Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65239952C>T , CM000674.2:g.65239952C>T | GRCh38 |
| NC_000012.11:g.65633732C>T , CM000674.1:g.65633732C>T | GRCh37 |
| NC_000012.10:g.63919999C>T | NCBI36 |
| NG_016210.1:g.75382C>T | |
| NG_016210.2:g.75382C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1945C>T MANE Select | ENSP00000308369.2:p.Leu649= | |
| ENST00000308330.2:c.1945C>T | ENSP00000308369.2:p.Leu649= | |
| NM_001167614.1:c.1942C>T | NP_001161086.1:p.Leu648= | |
| NM_014319.4:c.1945C>T | NP_055134.2:p.Leu649= | |
| NM_014319.5:c.1945C>T MANE Select | NP_055134.2:p.Leu649= | |
| NM_001167614.2:c.1942C>T | NP_001161086.1:p.Leu648= |