Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123642468G>A , CM000673.2:g.123642468G>A | GRCh38 |
| NC_000011.9:g.123513176G>A , CM000673.1:g.123513176G>A | GRCh37 |
| NC_000011.8:g.123018386G>A | NCBI36 |
| NG_016283.1:g.17140C>T , LRG_421:g.17140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299333.8:c.423C>T MANE Select | ENSP00000299333.3:p.Ile141= | |
| ENST00000657123.1:c.423C>T | ENSP00000499439.1:p.Ile141= | |
| ENST00000657191.1:c.423C>T | ENSP00000499755.1:p.Ile141= | |
| ENST00000659826.1:c.119C>T | ||
| ENST00000667790.1:c.423C>T | ENSP00000499234.1:p.Ile141= | |
| ENST00000299333.7:c.423C>T | ENSP00000299333.3:p.Ile141= | |
| ENST00000392770.6:c.423C>T | ENSP00000376523.2:p.Ile141= | |
| ENST00000527836.5:c.423C>T | ENSP00000435554.1:p.Ile141= | |
| ENST00000530277.5:c.423C>T | ENSP00000432785.1:p.Ile141= | |
| NM_001040151.1:c.423C>T | NP_001035241.1:p.Ile141= | |
| NM_018400.3:c.423C>T , LRG_421t1:c.423C>T | NP_060870.1:p.Ile141= | |
| XM_011542897.1:c.423C>T | XP_011541199.1:p.Ile141= | |
| XR_947858.1:n.830C>T | ||
| XM_011542897.2:c.423C>T | XP_011541199.1:p.Ile141= | |
| NM_001040151.2:c.423C>T MANE Select | NP_001035241.1:p.Ile141= | |
| NM_018400.4:c.423C>T | NP_060870.1:p.Ile141= |