Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123273339T>C , CM000668.2:g.123273339T>C | GRCh38 |
| NC_000006.11:g.123594484T>C , CM000668.1:g.123594484T>C | GRCh37 |
| NC_000006.10:g.123636183T>C | NCBI36 |
| NG_030438.1:g.368755A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1622A>G MANE Select | NP_006064.2:p.His541Arg |
| ENST00000334268.9:c.1622A>G MANE Select | ENSP00000333984.5:p.His541Arg |
| NM_006073.3:c.1622A>G | NP_006064.2:p.His541Arg |
| ENST00000334268.8:c.1622A>G | ENSP00000333984.5:p.His541Arg |
| XM_011535382.1:c.1544-328A>G | XP_011533684.1:n.1544-328A>G |