Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.184792231A>T , CM000663.2:g.184792231A>T | GRCh38 |
| NC_000001.10:g.184761365A>T , CM000663.1:g.184761365A>T | GRCh37 |
| NC_000001.9:g.183027988A>T | NCBI36 |
| NG_051588.1:g.187356T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052966.4:c.*2746T>A MANE Select | NP_443198.1:n.*2746T>A |
| ENST00000367511.4:c.*2746T>A MANE Select | ENSP00000356481.3:n.*2746T>A |
| NM_052966.3:c.*2746T>A | NP_443198.1:n.*2746T>A |
| ENST00000367511.3:c.*2746T>A | ENSP00000356481.3:n.*2746T>A |
| ENST00000417056.5:c.261-1166T>A | |
| XM_011509140.1:c.*2746T>A | XP_011507442.1:n.*2746T>A |
| XM_011509140.3:c.*2746T>A | XP_011507442.1:n.*2746T>A |
| XM_011509141.1:c.*2746T>A | XP_011507443.1:n.*2746T>A |
| XM_011509141.3:c.*2746T>A | XP_011507443.1:n.*2746T>A |