Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99851388A>C , CM000672.2:g.99851388A>C | GRCh38 |
| NC_000010.10:g.101611145A>C , CM000672.1:g.101611145A>C | GRCh37 |
| NC_000010.9:g.101601135A>C | NCBI36 |
| NG_011798.1:g.73683A>C | |
| NG_011798.2:g.73791A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4509-114A>C MANE Select | ENSP00000497274.1:n.4509-114A>C | |
| ENST00000648523.1:c.579-114A>C | ||
| ENST00000370449.8:c.4509-114A>C | ENSP00000359478.4:n.4509-114A>C | |
| NM_000392.4:c.4509-114A>C | NP_000383.1:n.4509-114A>C | |
| XM_006717630.2:c.3813-114A>C | XP_006717693.1:n.3813-114A>C | |
| XR_945605.1:n.4573-114A>C | ||
| NM_000392.5:c.4509-114A>C MANE Select | NP_000383.2:n.4509-114A>C | |
| XM_006717630.3:c.3813-114A>C | XP_006717693.1:n.3813-114A>C | |
| XR_945605.3:n.4625-114A>C |