Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101211720C>T , CM000669.2:g.101211720C>T | GRCh38 |
| NC_000007.13:g.100855001C>T , CM000669.1:g.100855001C>T | GRCh37 |
| NC_000007.12:g.100641721C>T | NCBI36 |
| NG_012148.1:g.11011G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001084.5:c.1233-4G>A MANE Select | NP_001075.1:n.1233-4G>A |
| ENST00000223127.8:c.1233-4G>A MANE Select | ENSP00000223127.3:n.1233-4G>A |
| NM_001084.4:c.1233-4G>A | NP_001075.1:n.1233-4G>A |
| ENST00000223127.7:c.1233-4G>A | ENSP00000223127.3:n.1233-4G>A |
| ENST00000421736.1:c.605-4G>A | |
| ENST00000440925.1:c.71-4G>A | |
| ENST00000460475.1:n.665-4G>A | |
| ENST00000463479.1:n.93-4G>A | |
| ENST00000478082.5:n.1433-4G>A |