Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128701531A>C , CM000674.2:g.128701531A>C | GRCh38 |
| NC_000012.11:g.129186076A>C , CM000674.1:g.129186076A>C | GRCh37 |
| NC_000012.10:g.127752029A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435159.3:c.2122-3559A>C MANE Select | ENSP00000410852.2:n.2122-3559A>C | |
| ENST00000435159.2:c.2122-3559A>C | ENSP00000410852.2:n.2122-3559A>C | |
| NM_001136103.2:c.2122-3559A>C | NP_001129575.2:n.2122-3559A>C | |
| XM_011538998.1:c.2062-3559A>C | XP_011537300.1:n.2062-3559A>C | |
| XM_011538998.2:c.2062-3559A>C | XP_011537300.1:n.2062-3559A>C | |
| XR_001748922.1:n.2355-3121A>C | ||
| NM_001136103.3:c.2122-3559A>C MANE Select | NP_001129575.2:n.2122-3559A>C | |
| NM_001387058.1:c.2062-3559A>C | NP_001373987.1:n.2062-3559A>C |