Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445472A>G , CM000673.2:g.2445472A>G | GRCh38 |
| NC_000011.9:g.2466702A>G , CM000673.1:g.2466702A>G | GRCh37 |
| NC_000011.8:g.2423278A>G | NCBI36 |
| NG_008935.1:g.5482A>G , LRG_287:g.5482A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000218.3:c.374A>G MANE Select | NP_000209.2:p.Tyr125Cys |
| ENST00000155840.12:c.374A>G MANE Select | ENSP00000155840.2:p.Tyr125Cys |
| NM_000218.2:c.374A>G , LRG_287t1:c.374A>G | NP_000209.2:p.Tyr125Cys |
| ENST00000155840.9:c.374A>G | ENSP00000155840.2:p.Tyr125Cys |
| ENST00000345015.4:n.151A>G | |
| ENST00000496887.6:c.113A>G | ENSP00000434560.1:p.Tyr38Cys |
| ENST00000496887.7:c.113A>G | ENSP00000434560.2:p.Tyr38Cys |
| ENST00000646564.1:c.20A>G | ENSP00000495806.1:p.Tyr7Cys |
| ENST00000646564.2:c.374A>G | ENSP00000495806.2:p.Tyr125Cys |