Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004206G>T , CM000681.2:g.47004206G>T | GRCh38 |
| NC_000019.9:g.47507463G>T , CM000681.1:g.47507463G>T | GRCh37 |
| NC_000019.8:g.52199303G>T | NCBI36 |
| NG_047014.1:g.90640G>T | |
| NG_047014.2:g.148210G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8018G>T | ENSP00000385720.2:n.8018G>T | |
| ENST00000672722.1:c.*3518G>T MANE Select | ENSP00000500409.1:n.*3518G>T | |
| ENST00000404338.7:c.8018G>T | ENSP00000385720.2:n.8018G>T | |
| ENST00000614079.1:c.7595G>T | ENSP00000483730.1:n.7595G>T | |
| NM_004491.4:c.8018G>T | NP_004482.4:n.8018G>T | |
| NM_004491.5:c.*3518G>T MANE Select | NP_004482.4:n.*3518G>T |