Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100404104G>T , CM000674.2:g.100404104G>T | GRCh38 |
| NC_000012.11:g.100797882G>T , CM000674.1:g.100797882G>T | GRCh37 |
| NC_000012.10:g.99322013G>T | NCBI36 |
| NG_021175.1:g.52026G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.1120G>T MANE Select | NP_647480.1:p.Ala374Ser |
| ENST00000323346.10:c.1120G>T MANE Select | ENSP00000316909.4:p.Ala374Ser |
| NM_001145288.1:c.970G>T | NP_001138760.1:p.Ala324Ser |
| NM_001145288.2:c.970G>T | NP_001138760.1:p.Ala324Ser |
| NM_139319.2:c.1120G>T | NP_647480.1:p.Ala374Ser |
| ENST00000323346.9:c.1120G>T | ENSP00000316909.4:p.Ala374Ser |
| ENST00000392989.3:c.970G>T | ENSP00000376715.3:p.Ala324Ser |
| ENST00000547922.1:n.195G>T |