Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101216413T>C , CM000669.2:g.101216413T>C | GRCh38 |
| NC_000007.13:g.100859694T>C , CM000669.1:g.100859694T>C | GRCh37 |
| NC_000007.12:g.100646414T>C | NCBI36 |
| NG_012148.1:g.6318A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001084.5:c.335A>G MANE Select | NP_001075.1:p.Asp112Gly |
| ENST00000223127.8:c.335A>G MANE Select | ENSP00000223127.3:p.Asp112Gly |
| NM_001084.4:c.335A>G | NP_001075.1:p.Asp112Gly |
| ENST00000223127.7:c.335A>G | ENSP00000223127.3:p.Asp112Gly |
| ENST00000414785.5:c.347A>G | ENSP00000407551.1:p.Asp116Gly |
| ENST00000424135.5:c.134A>G | ENSP00000404799.1:p.Asp45Gly |
| ENST00000478082.5:n.372A>G | |
| ENST00000489927.1:n.282A>G |