Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445471T>A , CM000673.2:g.2445471T>A | GRCh38 |
| NC_000011.9:g.2466701T>A , CM000673.1:g.2466701T>A | GRCh37 |
| NC_000011.8:g.2423277T>A | NCBI36 |
| NG_008935.1:g.5481T>A , LRG_287:g.5481T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000218.3:c.373T>A MANE Select | NP_000209.2:p.Tyr125Asn |
| ENST00000155840.12:c.373T>A MANE Select | ENSP00000155840.2:p.Tyr125Asn |
| NM_000218.2:c.373T>A , LRG_287t1:c.373T>A | NP_000209.2:p.Tyr125Asn |
| ENST00000155840.9:c.373T>A | ENSP00000155840.2:p.Tyr125Asn |
| ENST00000345015.4:n.150T>A | |
| ENST00000496887.6:c.112T>A | ENSP00000434560.1:p.Tyr38Asn |
| ENST00000496887.7:c.112T>A | ENSP00000434560.2:p.Tyr38Asn |
| ENST00000646564.1:c.19T>A | ENSP00000495806.1:p.Tyr7Asn |
| ENST00000646564.2:c.373T>A | ENSP00000495806.2:p.Tyr125Asn |