Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352455C= , CM000671.2:g.133352455C= | GRCh38 |
| NC_000009.10:g.135209131C= | NCBI36 |
| NG_008477.1:g.9052G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.742G= MANE Select | ENSP00000361042.3:p.Ala248= | |
| ENST00000371974.7:c.742G= | ENSP00000361042.3:p.Ala248= | |
| ENST00000437995.1:n.652G= | ||
| ENST00000495952.5:n.732G= | ||
| ENST00000615505.4:c.415G= | ENSP00000482067.1:p.Ala139= | |
| NM_001280787.1:c.415G= | NP_001267716.1:p.Ala139= | |
| NM_003172.3:c.742G= | NP_003163.1:p.Ala248= | |
| XM_011518942.1:c.415G= | XP_011517244.1:p.Ala139= | |
| NM_003172.4:c.742G= MANE Select | NP_003163.1:p.Ala248= |