Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123273009G>T , CM000668.2:g.123273009G>T | GRCh38 |
| NC_000006.11:g.123594154G>T , CM000668.1:g.123594154G>T | GRCh37 |
| NC_000006.10:g.123635853G>T | NCBI36 |
| NG_030438.1:g.369085C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1627C>A MANE Select | NP_006064.2:p.Gln543Lys |
| ENST00000334268.9:c.1627C>A MANE Select | ENSP00000333984.5:p.Gln543Lys |
| NM_006073.3:c.1627C>A | NP_006064.2:p.Gln543Lys |
| ENST00000334268.8:c.1627C>A | ENSP00000333984.5:p.Gln543Lys |
| XM_011535382.1:c.1546C>A | XP_011533684.1:p.Gln516Lys |