Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5603202G>C , CM000669.2:g.5603202G>C | GRCh38 |
| NC_000007.13:g.5642833G>C , CM000669.1:g.5642833G>C | GRCh37 |
| NC_000007.12:g.5609359G>C | NCBI36 |
| NG_030004.1:g.15398G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382361.8:c.833-55G>C MANE Select | ENSP00000371798.3:n.833-55G>C | |
| ENST00000382361.7:c.833-55G>C | ENSP00000371798.3:n.833-55G>C | |
| ENST00000405801.2:c.-2-55G>C | ENSP00000383982.2:n.-2-55G>C | |
| ENST00000444748.5:c.-2-55G>C | ENSP00000404506.1:n.-2-55G>C | |
| ENST00000447103.5:c.-2-55G>C | ENSP00000409967.1:n.-2-55G>C | |
| ENST00000473330.1:n.331G>C | ||
| NM_003088.3:c.833-55G>C | NP_003079.1:n.833-55G>C | |
| NM_003088.4:c.833-55G>C MANE Select | NP_003079.1:n.833-55G>C |