Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149986232A>C , CM000667.2:g.149986232A>C | GRCh38 |
| NC_000005.9:g.149365795A>C , CM000667.1:g.149365795A>C | GRCh37 |
| NC_000005.8:g.149345988A>C | NCBI36 |
| NG_007147.2:g.27350A>C , LRG_684:g.27350A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.*4419A>C MANE Select | NP_000103.2:n.*4419A>C |
| ENST00000286298.5:c.*4419A>C MANE Select | ENSP00000286298.4:n.*4419A>C |
| NM_000112.3:c.*4419A>C , LRG_684t1:c.*4419A>C | NP_000103.2:n.*4419A>C |
| ENST00000286298.4:c.*4419A>C | ENSP00000286298.4:n.*4419A>C |
| ENST00000503336.1:c.373-6978A>C | ENSP00000426053.1:n.373-6978A>C |
| XM_017009191.2:c.*4316A>C | XP_016864680.1:n.*4316A>C |