Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48463741G>T , CM000675.2:g.48463741G>T | GRCh38 |
| NC_000013.10:g.49037877G>T , CM000675.1:g.49037877G>T | GRCh37 |
| NC_000013.9:g.47935878G>T | NCBI36 |
| NG_009009.1:g.164995G>T , LRG_517:g.164995G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.2117G>T MANE Select | NP_000312.2:p.Cys706Phe |
| ENST00000267163.6:c.2117G>T MANE Select | ENSP00000267163.4:p.Cys706Phe |
| NM_000321.2:c.2117G>T , LRG_517t1:c.2117G>T | NP_000312.2:p.Cys706Phe |
| ENST00000267163.4:c.2117G>T | ENSP00000267163.4:p.Cys706Phe |
| ENST00000643064.1:c.194+82298G>T | |
| ENST00000650461.1:c.2117G>T | ENSP00000497193.1:p.Cys706Phe |
| XM_011535171.1:c.1856G>T | XP_011533473.1:p.Cys619Phe |
| XM_011535171.2:c.1856G>T | XP_011533473.1:p.Cys619Phe |