Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160731890A>C , CM000668.2:g.160731890A>C | GRCh38 |
| NC_000006.11:g.161152922A>C , CM000668.1:g.161152922A>C | GRCh37 |
| NC_000006.10:g.161072912A>C | NCBI36 |
| NG_016200.1:g.34698A>C , LRG_571:g.34698A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000301.5:c.1584A>C MANE Select | NP_000292.1:p.Lys528Asn |
| ENST00000308192.14:c.1584A>C MANE Select | ENSP00000308938.9:p.Lys528Asn |
| NM_000301.3:c.1584A>C , LRG_571t1:c.1584A>C | NP_000292.1:p.Lys528Asn |
| NM_000301.4:c.1584A>C | NP_000292.1:p.Lys528Asn |
| ENST00000297289.9:c.537A>C | ENSP00000516619.1:p.Lys179Asn |
| ENST00000308192.13:c.1584A>C | ENSP00000308938.9:p.Lys528Asn |
| ENST00000418964.2:c.1635A>C | ENSP00000389424.2:p.Lys545Asn |
| ENST00000706906.1:c.1584A>C | ENSP00000516618.1:p.Lys528Asn |
| ENST00000706907.1:n.60A>C |