Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48381258C>A , CM000675.2:g.48381258C>A | GRCh38 |
| NC_000013.10:g.48955394C>A , CM000675.1:g.48955394C>A | GRCh37 |
| NC_000013.9:g.47853395C>A | NCBI36 |
| NG_009009.1:g.82512C>A , LRG_517:g.82512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1510C>A MANE Select | ENSP00000267163.4:p.Gln504Lys | |
| ENST00000643064.1:c.9C>A | ||
| ENST00000650461.1:c.1510C>A | ENSP00000497193.1:p.Gln504Lys | |
| ENST00000267163.4:c.1510C>A | ENSP00000267163.4:p.Gln504Lys | |
| NM_000321.2:c.1510C>A , LRG_517t1:c.1510C>A | NP_000312.2:p.Gln504Lys | |
| XM_011535171.1:c.1249C>A | XP_011533473.1:p.Gln417Lys | |
| XM_011535171.2:c.1249C>A | XP_011533473.1:p.Gln417Lys | |
| NM_000321.3:c.1510C>A MANE Select | NP_000312.2:p.Gln504Lys |