Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394318A>T , CM000667.2:g.1394318A>T | GRCh38 |
| NC_000005.9:g.1394433A>T , CM000667.1:g.1394433A>T | GRCh37 |
| NC_000005.8:g.1447433A>T | NCBI36 |
| NG_015885.1:g.56111T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*417T>A MANE Select | ENSP00000270349.9:n.*417T>A | |
| ENST00000270349.11:c.*417T>A | ENSP00000270349.9:n.*417T>A | |
| ENST00000512002.2:n.661T>A | ||
| NM_001044.4:c.*417T>A | NP_001035.1:n.*417T>A | |
| NM_001044.5:c.*417T>A MANE Select | NP_001035.1:n.*417T>A |