Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160031516C>T , CM000663.2:g.160031516C>T | GRCh38 |
| NC_000001.10:g.160001306C>T , CM000663.1:g.160001306C>T | GRCh37 |
| NC_000001.9:g.158267930C>T | NCBI36 |
| NG_012238.1:g.5478G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368090.5:c.224G>A (PIGM) MANE Select | ENSP00000357069.2:p.Arg75His | |
| ENST00000509700.2:c.671+10318G>A (KCNJ10) | ||
| ENST00000637644.1:c.487+10530G>A (KCNJ10) | ENSP00000490282.1:n.487+10530G>A | |
| ENST00000639408.1:c.587+8986G>A (KCNJ10) | ENSP00000491635.1:n.587+8986G>A | |
| ENST00000640914.1:c.224+8986G>A (KCNJ10) | ||
| ENST00000368090.3:c.224G>A (PIGM) | ENSP00000357069.2:p.Arg75His | |
| NM_145167.2:c.224G>A (PIGM) | NP_660150.1:p.Arg75His | |
| NM_145167.3:c.224G>A (PIGM) MANE Select | NP_660150.1:p.Arg75His |