Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79921654A>G , CM000668.2:g.79921654A>G | GRCh38 |
| NC_000006.11:g.80631371A>G , CM000668.1:g.80631371A>G | GRCh37 |
| NC_000006.10:g.80688090A>G | NCBI36 |
| NG_009108.1:g.30945T>C | |
| NG_009108.2:g.30945T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369816.5:c.512T>C MANE Select | ENSP00000358831.4:p.Ile171Thr | |
| ENST00000369816.4:c.512T>C | ENSP00000358831.4:p.Ile171Thr | |
| NM_022726.3:c.512T>C | NP_073563.1:p.Ile171Thr | |
| NM_022726.4:c.512T>C MANE Select | NP_073563.1:p.Ile171Thr |