Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10283515C>G , CM000681.2:g.10283515C>G | GRCh38 |
| NC_000019.9:g.10394191C>G , CM000681.1:g.10394191C>G | GRCh37 |
| NC_000019.8:g.10255191C>G | NCBI36 |
| NG_007728.1:g.1542C>G | |
| NG_012083.1:g.17675C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264832.8:c.366C>G MANE Select | ENSP00000264832.2:p.Pro122= | |
| ENST00000264832.7:c.366C>G | ENSP00000264832.2:p.Pro122= | |
| ENST00000423829.2:c.68-614C>G | ENSP00000413124.2:n.68-614C>G | |
| ENST00000585443.1:n.489C>G | ||
| ENST00000588645.1:c.345+21C>G | ENSP00000465680.1:n.345+21C>G | |
| ENST00000592686.1:n.234C>G | ||
| NM_000201.2:c.366C>G | NP_000192.2:p.Pro122= | |
| NM_000201.3:c.366C>G MANE Select | NP_000192.2:p.Pro122= |