Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119287852A>C , CM000673.2:g.119287852A>C | GRCh38 |
| NC_000011.9:g.119158562A>C , CM000673.1:g.119158562A>C | GRCh37 |
| NC_000011.8:g.118663772A>C | NCBI36 |
| NG_016808.1:g.86573A>C , LRG_608:g.86573A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005188.4:c.1942A>C MANE Select | NP_005179.2:p.Ser648Arg |
| ENST00000264033.6:c.1942A>C MANE Select | ENSP00000264033.3:p.Ser648Arg |
| NM_005188.3:c.1942A>C , LRG_608t1:c.1942A>C | NP_005179.2:p.Ser648Arg |
| ENST00000264033.5:c.1942A>C | ENSP00000264033.3:p.Ser648Arg |
| ENST00000634586.1:c.1942A>C | ENSP00000489218.1:p.Ser648Arg |
| ENST00000634840.1:c.1810A>C | ENSP00000489324.1:p.Ser604Arg |
| ENST00000637974.1:c.1936A>C | ENSP00000490763.1:p.Ser646Arg |
| ENST00000700472.1:c.*1394A>C | ENSP00000515005.1:n.*1394A>C |