Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731869C>T , CM000685.2:g.8731869C>T | GRCh38 |
| NC_000023.10:g.8699910C>T , CM000685.1:g.8699910C>T | GRCh37 |
| NC_000023.9:g.8659910C>T | NCBI36 |
| NG_007088.1:g.5318G>A | |
| NG_007088.2:g.5318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.168G>A MANE Select | ENSP00000262648.3:p.Leu56= | |
| ENST00000262648.7:c.168G>A | ENSP00000262648.3:p.Leu56= | |
| ENST00000619786.1:c.165G>A | ENSP00000478734.1:p.Leu55= | |
| NM_000216.2:c.168G>A | NP_000207.2:p.Leu56= | |
| XM_005274501.3:c.168G>A | XP_005274558.1:p.Leu56= | |
| NM_000216.3:c.168G>A | NP_000207.2:p.Leu56= | |
| XM_005274501.4:c.168G>A | XP_005274558.1:p.Leu56= | |
| NM_000216.4:c.168G>A MANE Select | NP_000207.2:p.Leu56= |