Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32143822A>G , CM000667.2:g.32143822A>G | GRCh38 |
| NC_000005.9:g.32143928A>G , CM000667.1:g.32143928A>G | GRCh37 |
| NC_000005.8:g.32179685A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265070.7:c.284T>C MANE Select | ENSP00000265070.6:p.Ile95Thr | |
| ENST00000265070.6:c.284T>C | ENSP00000265070.6:p.Ile95Thr | |
| ENST00000503610.5:c.*66T>C | ENSP00000426752.1:n.*66T>C | |
| ENST00000512668.1:n.509-8136T>C | ||
| NM_022130.3:c.284T>C | NP_071413.1:p.Ile95Thr | |
| XM_017009686.2:c.8T>C | XP_016865175.1:p.Ile3Thr | |
| NM_022130.4:c.284T>C MANE Select | NP_071413.1:p.Ile95Thr |