Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95252208C>T , CM000670.2:g.95252208C>T | GRCh38 |
| NC_000008.10:g.96264436C>T , CM000670.1:g.96264436C>T | GRCh37 |
| NC_000008.9:g.96333612C>T | NCBI36 |
| NG_032804.1:g.22027G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177965.4:c.450G>A MANE Select | NP_808880.1:p.Ser150= |
| ENST00000286688.6:c.450G>A MANE Select | ENSP00000286688.5:p.Ser150= |
| NM_001363260.1:c.375-4438G>A | NP_001350189.1:n.375-4438G>A |
| NM_177965.3:c.450G>A | NP_808880.1:p.Ser150= |
| ENST00000286688.5:c.450G>A | ENSP00000286688.5:p.Ser150= |
| XM_005250799.2:c.714-4438G>A | XP_005250856.2:n.714-4438G>A |