Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004187G>C , CM000681.2:g.47004187G>C | GRCh38 |
| NC_000019.9:g.47507444G>C , CM000681.1:g.47507444G>C | GRCh37 |
| NC_000019.8:g.52199284G>C | NCBI36 |
| NG_047014.1:g.90621G>C | |
| NG_047014.2:g.148191G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7999G>C | ENSP00000385720.2:n.7999G>C | |
| ENST00000672722.1:c.*3499G>C MANE Select | ENSP00000500409.1:n.*3499G>C | |
| ENST00000404338.7:c.7999G>C | ENSP00000385720.2:n.7999G>C | |
| ENST00000614079.1:c.7576G>C | ENSP00000483730.1:n.7576G>C | |
| NM_004491.4:c.7999G>C | NP_004482.4:n.7999G>C | |
| NM_004491.5:c.*3499G>C MANE Select | NP_004482.4:n.*3499G>C |