Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39690492C>T , CM000669.2:g.39690492C>T | GRCh38 |
| NC_000007.13:g.39730091C>T , CM000669.1:g.39730091C>T | GRCh37 |
| NC_000007.12:g.39696616C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005257.7:c.225C>T MANE Select | ENSP00000005257.2:p.Tyr75= | |
| ENST00000005257.6:c.225C>T | ENSP00000005257.2:p.Tyr75= | |
| ENST00000434466.1:c.206C>T | ||
| ENST00000436179.1:c.225C>T | ENSP00000388975.1:p.Tyr75= | |
| ENST00000468201.1:n.262-6193C>T | ||
| NM_005402.3:c.225C>T | NP_005393.2:p.Tyr75= | |
| XM_006715762.2:c.225C>T | XP_006715825.1:p.Tyr75= | |
| XM_011515466.1:c.225C>T | XP_011513768.1:p.Tyr75= | |
| XM_006715762.3:c.225C>T | XP_006715825.1:p.Tyr75= | |
| NM_005402.4:c.225C>T MANE Select | NP_005393.2:p.Tyr75= |