Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32121077G>T , CM000668.2:g.32121077G>T | GRCh38 |
| NC_000006.11:g.32088854G>T , CM000668.1:g.32088854G>T | GRCh37 |
| NC_000006.10:g.32196832G>T | NCBI36 |
| NG_033940.1:g.12164C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375203.8:c.612C>A MANE Select | ENSP00000364349.3:p.Ser204= | |
| ENST00000453203.2:c.612C>A | ENSP00000393419.2:p.Ser204= | |
| ENST00000375201.8:c.603C>A | ENSP00000364347.4:p.Ser201= | |
| ENST00000375203.7:c.612C>A | ENSP00000364349.3:p.Ser204= | |
| ENST00000485314.5:n.538C>A | ||
| ENST00000495579.5:n.627C>A | ||
| NM_001136153.1:c.603C>A | NP_001129625.1:p.Ser201= | |
| NM_004381.4:c.612C>A | NP_004372.3:p.Ser204= | |
| NM_004381.5:c.612C>A MANE Select | NP_004372.3:p.Ser204= | |
| NM_001136153.2:c.603C>A | NP_001129625.1:p.Ser201= |