Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029738A>G , CM000666.2:g.52029738A>G | GRCh38 |
| NC_000004.11:g.52895904A>G , CM000666.1:g.52895904A>G | GRCh37 |
| NC_000004.10:g.52590661A>G | NCBI36 |
| NG_008891.1:g.13582T>C , LRG_204:g.13582T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000232.5:c.369T>C MANE Select | NP_000223.1:p.Tyr123= |
| ENST00000381431.10:c.369T>C MANE Select | ENSP00000370839.6:p.Tyr123= |
| NM_000232.4:c.369T>C , LRG_204t1:c.369T>C | NP_000223.1:p.Tyr123= |
| ENST00000381431.9:c.369T>C | ENSP00000370839.5:p.Tyr123= |
| ENST00000506357.5:c.452T>C | |
| ENST00000514133.1:c.446T>C | ENSP00000425818.1:n.446T>C |
| XM_006714049.2:c.72T>C | XP_006714112.1:p.Tyr24= |
| XM_011534403.1:c.159T>C | XP_011532705.1:p.Tyr53= |
| XM_011534404.1:c.72T>C | XP_011532706.1:p.Tyr24= |