Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274960G>C , CM000681.2:g.2274960G>C | GRCh38 |
| NC_000019.9:g.2274959G>C , CM000681.1:g.2274959G>C | GRCh37 |
| NC_000019.8:g.2225959G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*720C>G MANE Select | ENSP00000345102.3:n.*720C>G | |
| ENST00000342063.4:c.*720C>G | ENSP00000345102.3:n.*720C>G | |
| ENST00000621615.1:c.146+5216G>C | ENSP00000481965.1:n.146+5216G>C | |
| NM_198532.2:c.*720C>G | NP_940934.1:n.*720C>G | |
| NM_198532.3:c.*720C>G MANE Select | NP_940934.1:n.*720C>G |