Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954178T>G , CM000670.2:g.19954178T>G | GRCh38 |
| NC_000008.10:g.19811689T>G , CM000670.1:g.19811689T>G | GRCh37 |
| NC_000008.9:g.19855969T>G | NCBI36 |
| NG_008855.1:g.20108T>G | |
| NG_008855.2:g.57462T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.600T>G MANE Select | ENSP00000497642.1:p.Pro200= | |
| ENST00000311322.8:c.600T>G | ENSP00000309757.6:p.Pro200= | |
| NM_000237.2:c.600T>G | NP_000228.1:p.Pro200= | |
| NM_000237.3:c.600T>G MANE Select | NP_000228.1:p.Pro200= |