Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160737006A>C , CM000668.2:g.160737006A>C | GRCh38 |
| NC_000006.11:g.161158038A>C , CM000668.1:g.161158038A>C | GRCh37 |
| NC_000006.10:g.161078028A>C | NCBI36 |
| NG_016200.1:g.39814A>C , LRG_571:g.39814A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000301.5:c.1801A>C MANE Select | NP_000292.1:p.Arg601= |
| ENST00000308192.14:c.1801A>C MANE Select | ENSP00000308938.9:p.Arg601= |
| NM_000301.3:c.1801A>C , LRG_571t1:c.1801A>C | NP_000292.1:p.Arg601= |
| NM_000301.4:c.1801A>C | NP_000292.1:p.Arg601= |
| ENST00000297289.9:c.754A>C | ENSP00000516619.1:p.Arg252= |
| ENST00000308192.13:c.1801A>C | ENSP00000308938.9:p.Arg601= |
| ENST00000418964.2:c.1852A>C | ENSP00000389424.2:p.Arg618= |
| ENST00000706906.1:c.*1821A>C | ENSP00000516618.1:n.*1821A>C |