Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160031222T>C , CM000663.2:g.160031222T>C | GRCh38 |
| NC_000001.10:g.160001012T>C , CM000663.1:g.160001012T>C | GRCh37 |
| NC_000001.9:g.158267636T>C | NCBI36 |
| NG_012238.1:g.5772A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145167.3:c.518A>G (PIGM) MANE Select | NP_660150.1:p.Tyr173Cys |
| ENST00000368090.5:c.518A>G (PIGM) MANE Select | ENSP00000357069.2:p.Tyr173Cys |
| NM_145167.2:c.518A>G (PIGM) | NP_660150.1:p.Tyr173Cys |
| ENST00000368090.3:c.518A>G (PIGM) | ENSP00000357069.2:p.Tyr173Cys |
| ENST00000509700.2:c.671+10612A>G (KCNJ10) | |
| ENST00000637644.1:c.487+10824A>G (KCNJ10) | ENSP00000490282.1:n.487+10824A>G |
| ENST00000639408.1:c.587+9280A>G (KCNJ10) | ENSP00000491635.1:n.587+9280A>G |
| ENST00000640914.1:c.224+9280A>G (KCNJ10) |