Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572939G>T , CM000685.2:g.47572939G>T | GRCh38 |
| NC_000023.10:g.47432338G>T , CM000685.1:g.47432338G>T | GRCh37 |
| NC_000023.9:g.47317282G>T | NCBI36 |
| NG_008437.1:g.51919C>A | |
| NG_016339.1:g.16823G>T | |
| NG_016339.2:g.16823G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.2043C>A MANE Select | ENSP00000295987.7:p.Ser681Arg | |
| ENST00000340666.5:c.2005C>A | ENSP00000343206.4:p.Pro669Thr | |
| ENST00000640721.1:c.93C>A | ENSP00000492857.1:p.Ser31Arg | |
| ENST00000295987.11:c.2043C>A | ENSP00000295987.7:p.Ser681Arg | |
| ENST00000340666.4:c.2005C>A | ENSP00000343206.4:p.Pro669Thr | |
| NM_006950.3:c.2043C>A MANE Select | NP_008881.2:p.Ser681Arg | |
| NM_133499.2:c.2005C>A | NP_598006.1:p.Pro669Thr |