Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44373017C>T , CM000672.2:g.44373017C>T | GRCh38 |
| NC_000010.10:g.44868465C>T , CM000672.1:g.44868465C>T | GRCh37 |
| NC_000010.9:g.44188471C>T | NCBI36 |
| NG_016861.1:g.17081G>A | |
| NG_016861.2:g.17081G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000609.6:c.*311G>A | NP_000600.1:n.*311G>A |
| NM_000609.7:c.*311G>A | NP_000600.1:n.*311G>A |
| NM_001277990.1:c.183G>A | NP_001264919.1:p.Leu61= |
| NM_001277990.2:c.183G>A | NP_001264919.1:p.Leu61= |
| ENST00000374429.6:c.*311G>A | ENSP00000363551.2:n.*311G>A |
| ENST00000395793.7:c.183G>A | ENSP00000379139.3:p.Leu61= |
| ENST00000395795.5:c.183G>A | ENSP00000379141.5:p.Leu61= |
| XR_001747171.1:n.331+5620G>A | |
| XR_001747172.1:n.331+5620G>A | |
| XR_001747173.1:n.331+5620G>A | |
| XR_001747174.1:n.331+5620G>A |