Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6610192C>A , CM000671.2:g.6610192C>A | GRCh38 |
| NC_000009.11:g.6610192C>A , CM000671.1:g.6610192C>A | GRCh37 |
| NC_000009.10:g.6600192C>A | NCBI36 |
| NG_016397.1:g.40501G>T , LRG_643:g.40501G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.635G>T MANE Select | NP_000161.2:p.Arg212Ile |
| ENST00000321612.8:c.635G>T MANE Select | ENSP00000370737.4:p.Arg212Ile |
| NM_000170.2:c.635G>T , LRG_643t1:c.635G>T | NP_000161.2:p.Arg212Ile |
| ENST00000321612.6:c.635G>T | ENSP00000370737.3:p.Arg212Ile |
| ENST00000639364.1:n.335G>T | |
| ENST00000639840.1:c.341G>T | ENSP00000491161.1:p.Arg114Ile |
| ENST00000639954.1:n.343G>T | |
| ENST00000640592.1:n.518G>T |