Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160031286A>C , CM000663.2:g.160031286A>C | GRCh38 |
| NC_000001.10:g.160001076A>C , CM000663.1:g.160001076A>C | GRCh37 |
| NC_000001.9:g.158267700A>C | NCBI36 |
| NG_012238.1:g.5708T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145167.3:c.454T>G (PIGM) MANE Select | NP_660150.1:p.Ser152Ala |
| ENST00000368090.5:c.454T>G (PIGM) MANE Select | ENSP00000357069.2:p.Ser152Ala |
| NM_145167.2:c.454T>G (PIGM) | NP_660150.1:p.Ser152Ala |
| ENST00000368090.3:c.454T>G (PIGM) | ENSP00000357069.2:p.Ser152Ala |
| ENST00000509700.2:c.671+10548T>G (KCNJ10) | |
| ENST00000637644.1:c.487+10760T>G (KCNJ10) | ENSP00000490282.1:n.487+10760T>G |
| ENST00000639408.1:c.587+9216T>G (KCNJ10) | ENSP00000491635.1:n.587+9216T>G |
| ENST00000640914.1:c.224+9216T>G (KCNJ10) |