Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149982256T>C , CM000667.2:g.149982256T>C | GRCh38 |
| NC_000005.9:g.149361819T>C , CM000667.1:g.149361819T>C | GRCh37 |
| NC_000005.8:g.149342012T>C | NCBI36 |
| NG_007147.2:g.23374T>C , LRG_684:g.23374T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.*443T>C MANE Select | NP_000103.2:n.*443T>C |
| ENST00000286298.5:c.*443T>C MANE Select | ENSP00000286298.4:n.*443T>C |
| NM_000112.3:c.*443T>C , LRG_684t1:c.*443T>C | NP_000103.2:n.*443T>C |
| ENST00000286298.4:c.*443T>C | ENSP00000286298.4:n.*443T>C |
| ENST00000503336.1:c.372+3905T>C | ENSP00000426053.1:n.372+3905T>C |
| XM_017009191.2:c.*340T>C | XP_016864680.1:n.*340T>C |