Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837601T>A , CM000685.2:g.154837601T>A | GRCh38 |
| NC_000023.10:g.154065876T>A , CM000685.1:g.154065876T>A | GRCh37 |
| NC_000023.9:g.153719070T>A | NCBI36 |
| NG_011403.1:g.190123A>T | |
| NG_033065.1:g.2062A>T | |
| NG_011403.2:g.190123A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.7052A>T MANE Select | NP_000123.1:p.Tyr2351Phe |
| ENST00000360256.9:c.7052A>T MANE Select | ENSP00000353393.4:p.Tyr2351Phe |
| NM_000132.3:c.7052A>T | NP_000123.1:p.Tyr2351Phe |
| NM_019863.2:c.647A>T | NP_063916.1:p.Tyr216Phe |
| NM_019863.3:c.647A>T | NP_063916.1:p.Tyr216Phe |
| ENST00000330287.10:c.647A>T | ENSP00000327895.6:p.Tyr216Phe |
| ENST00000360256.8:c.7052A>T | ENSP00000353393.4:p.Tyr2351Phe |
| ENST00000644698.1:c.785A>T | ENSP00000495706.1:p.Tyr262Phe |
| XM_011531126.1:c.6947A>T | XP_011529428.1:p.Tyr2316Phe |