Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110511955G>C , CM000675.2:g.110511955G>C | GRCh38 |
| NC_000013.10:g.111164302G>C , CM000675.1:g.111164302G>C | GRCh37 |
| NC_000013.9:g.109962303G>C | NCBI36 |
| NG_032137.1:g.209672G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001846.4:c.4903G>C MANE Select | NP_001837.2:p.Gly1635Arg |
| ENST00000360467.7:c.4903G>C MANE Select | ENSP00000353654.5:p.Gly1635Arg |
| NM_001846.2:c.4903G>C | NP_001837.2:p.Gly1635Arg |
| NM_001846.3:c.4903G>C | NP_001837.2:p.Gly1635Arg |
| ENST00000360467.5:c.4903G>C | ENSP00000353654.5:p.Gly1635Arg |
| ENST00000463084.1:n.501G>C | |
| ENST00000648222.1:n.591G>C | |
| ENST00000650225.1:n.2558G>C |