Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170046C>G , CM000674.2:g.65170046C>G | GRCh38 |
| NC_000012.11:g.65563826C>G , CM000674.1:g.65563826C>G | GRCh37 |
| NC_000012.10:g.63850093C>G | NCBI36 |
| NG_016210.1:g.5476C>G | |
| NG_016210.2:g.5476C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.450C>G MANE Select | ENSP00000308369.2:p.Pro150= | |
| ENST00000308330.2:c.450C>G | ENSP00000308369.2:p.Pro150= | |
| ENST00000541171.1:n.464C>G | ||
| NM_001167614.1:c.450C>G | NP_001161086.1:p.Pro150= | |
| NM_014319.4:c.450C>G | NP_055134.2:p.Pro150= | |
| NM_014319.5:c.450C>G MANE Select | NP_055134.2:p.Pro150= | |
| NM_001167614.2:c.450C>G | NP_001161086.1:p.Pro150= |