Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868613G>T , CM000673.2:g.65868613G>T | GRCh38 |
| NC_000011.9:g.65636084G>T , CM000673.1:g.65636084G>T | GRCh37 |
| NC_000011.8:g.65392660G>T | NCBI36 |
| NG_012304.2:g.9322C>A | |
| NG_053116.1:g.13552G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.744C>A MANE Select | ENSP00000309953.6:p.Ser248Arg | |
| ENST00000307998.10:c.744C>A | ENSP00000309953.6:p.Ser248Arg | |
| ENST00000526628.5:n.1310C>A | ||
| ENST00000527969.1:n.1429C>A | ||
| ENST00000528176.5:c.744C>A | ENSP00000434151.1:p.Ser248Arg | |
| ENST00000531005.5:n.1738C>A | ||
| ENST00000531972.5:c.744C>A | ENSP00000435295.1:p.Ser248Arg | |
| ENST00000532084.5:n.170C>A | ||
| NM_016938.4:c.744C>A | NP_058634.4:p.Ser248Arg | |
| NR_037718.1:n.1003C>A | ||
| NM_016938.5:c.744C>A MANE Select | NP_058634.4:p.Ser248Arg | |
| NR_037718.2:n.869C>A |