Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816197G>C , CM000681.2:g.4816197G>C | GRCh38 |
| NC_000019.9:g.4816209G>C , CM000681.1:g.4816209G>C | GRCh37 |
| NC_000019.8:g.4767209G>C | NCBI36 |
| NG_031998.1:g.20546C>G , LRG_358:g.20546C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.*42C>G MANE Select | ENSP00000248244.4:n.*42C>G | |
| ENST00000248244.5:c.*42C>G | ENSP00000248244.4:n.*42C>G | |
| NM_182919.3:c.*42C>G , LRG_358t1:c.*42C>G | NP_891549.1:n.*42C>G | |
| NM_001385678.1:c.*42C>G | NP_001372607.1:n.*42C>G | |
| NM_001385679.1:c.*42C>G | NP_001372608.1:n.*42C>G | |
| NM_001385680.1:c.*42C>G | NP_001372609.1:n.*42C>G | |
| NM_182919.4:c.*42C>G MANE Select | NP_891549.1:n.*42C>G |