Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35387122A>T , CM000684.2:g.35387122A>T | GRCh38 |
| NC_000022.10:g.35783115A>T , CM000684.1:g.35783115A>T | GRCh37 |
| NC_000022.9:g.34113115A>T | NCBI36 |
| NG_023030.1:g.11056A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216117.9:c.582A>T MANE Select | ENSP00000216117.8:p.Ala194= | |
| ENST00000481190.2:c.*487A>T | ENSP00000503987.1:n.*487A>T | |
| ENST00000677931.1:c.145-2742A>T | ENSP00000502849.1:n.145-2742A>T | |
| ENST00000678411.1:c.189A>T | ENSP00000503526.1:p.Ala63= | |
| ENST00000679074.1:c.582A>T | ENSP00000503459.1:p.Ala194= | |
| ENST00000216117.8:c.582A>T | ENSP00000216117.8:p.Ala194= | |
| ENST00000494998.1:n.83A>T | ||
| NM_002133.2:c.582A>T | NP_002124.1:p.Ala194= | |
| NM_002133.3:c.582A>T MANE Select | NP_002124.1:p.Ala194= |