Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789283G>C , CM000681.2:g.18789283G>C | GRCh38 |
| NC_000019.9:g.18900092G>C , CM000681.1:g.18900092G>C | GRCh37 |
| NC_000019.8:g.18761092G>C | NCBI36 |
| NG_007070.1:g.7023C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.405C>G MANE Select | ENSP00000222271.2:p.Pro135= | |
| ENST00000222271.6:c.405C>G | ENSP00000222271.2:p.Pro135= | |
| ENST00000425807.1:c.391-391C>G | ENSP00000403792.1:n.391-391C>G | |
| ENST00000542601.6:c.306C>G | ENSP00000439156.2:p.Pro102= | |
| NM_000095.2:c.405C>G | NP_000086.2:p.Pro135= | |
| NM_000095.3:c.405C>G MANE Select | NP_000086.2:p.Pro135= |