Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912250C>T , CM000663.2:g.145912250C>T | GRCh38 |
| NC_000001.10:g.145522830G>A , CM000663.1:g.145522830G>A | GRCh37 |
| NC_000001.9:g.144234187G>A | NCBI36 |
| NG_033000.3:g.11675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.691G>A MANE Select | ENSP00000358312.3:p.Gly231Ser | |
| ENST00000369306.7:c.691G>A | ENSP00000358312.3:p.Gly231Ser | |
| ENST00000428634.1:c.157G>A | ENSP00000414018.1:p.Gly53Ser | |
| ENST00000537888.1:c.649G>A | ENSP00000437510.1:p.Gly217Ser | |
| NM_001184795.1:c.649G>A | NP_001171724.1:p.Gly217Ser | |
| NM_003846.2:c.691G>A | NP_003837.1:p.Gly231Ser | |
| NR_073491.1:n.923G>A | ||
| NR_073492.1:n.917G>A | ||
| NR_073493.2:n.1139G>A | ||
| NM_003846.3:c.691G>A MANE Select | NP_003837.1:p.Gly231Ser | |
| NR_073491.2:n.716G>A | ||
| NR_073492.2:n.710G>A |