Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144442795G>A , CM000670.2:g.144442795G>A | GRCh38 |
| NC_000008.10:g.145668178G>A , CM000670.1:g.145668178G>A | GRCh37 |
| NC_000008.9:g.145638986G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013432.5:c.460C>T MANE Select | NP_038460.4:p.Gln154Ter |
| ENST00000409379.8:c.460C>T MANE Select | ENSP00000386239.3:p.Gln154Ter |
| NM_013432.4:c.460C>T | NP_038460.4:p.Gln154Ter |
| ENST00000409379.7:c.460C>T | ENSP00000386239.3:p.Gln154Ter |
| ENST00000497613.2:n.62C>T | |
| ENST00000613741.1:c.-18C>T | ENSP00000484162.1:n.-18C>T |
| XM_011517047.1:c.460C>T | XP_011515349.1:p.Gln154Ter |
| XM_011517050.1:c.460C>T | XP_011515352.1:p.Gln154Ter |
| XM_011517050.2:c.460C>T | XP_011515352.1:p.Gln154Ter |