Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44370520T>A , CM000672.2:g.44370520T>A | GRCh38 |
| NC_000010.10:g.44865968T>A , CM000672.1:g.44865968T>A | GRCh37 |
| NC_000010.9:g.44185974T>A | NCBI36 |
| NG_016861.1:g.19578A>T | |
| NG_016861.2:g.19578A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374429.6:c.*2808A>T | ENSP00000363551.2:n.*2808A>T | |
| NM_000609.6:c.*2808A>T | NP_000600.1:n.*2808A>T | |
| NM_001277990.1:c.*2368A>T | NP_001264919.1:n.*2368A>T | |
| XR_001747171.1:n.331+8117A>T | ||
| XR_001747172.1:n.331+8117A>T | ||
| XR_001747173.1:n.331+8117A>T | ||
| XR_001747174.1:n.331+8117A>T | ||
| NM_000609.7:c.*2808A>T | NP_000600.1:n.*2808A>T | |
| NM_001277990.2:c.*2368A>T | NP_001264919.1:n.*2368A>T |