Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100648768T>G , CM000669.2:g.100648768T>G | GRCh38 |
| NC_000007.13:g.100246391T>G , CM000669.1:g.100246391T>G | GRCh37 |
| NC_000007.12:g.100084327T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016188.5:c.523A>C MANE Select | NP_057272.1:p.Thr175Pro |
| ENST00000160382.10:c.523A>C MANE Select | ENSP00000160382.5:p.Thr175Pro |
| NM_016188.4:c.523A>C | NP_057272.1:p.Thr175Pro |
| NR_134539.1:n.630A>C | |
| NR_134539.2:n.617A>C | |
| ENST00000160382.9:c.523A>C | ENSP00000160382.5:p.Thr175Pro |
| ENST00000485601.5:n.604A>C | |
| ENST00000487225.5:n.751A>C | |
| XR_927476.1:n.630A>C |