Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29553100T>C , CM000668.2:g.29553100T>C | GRCh38 |
| NC_000006.11:g.29520877T>C , CM000668.1:g.29520877T>C | GRCh37 |
| NC_000006.10:g.29628856T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001396058.1:c.7-125T>C MANE Select | NP_001382987.1:n.7-125T>C |
| ENST00000641137.2:c.7-125T>C MANE Select | ENSP00000493715.1:n.7-125T>C |
| ENST00000641137.1:c.7-125T>C | ENSP00000493715.1:n.7-125T>C |
| ENST00000641730.1:n.744T>C | |
| ENST00000642037.1:n.195-125T>C |