Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160030547A>G , CM000663.2:g.160030547A>G | GRCh38 |
| NC_000001.10:g.160000337A>G , CM000663.1:g.160000337A>G | GRCh37 |
| NC_000001.9:g.158266961A>G | NCBI36 |
| NG_012238.1:g.6447T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368090.5:c.1193T>C (PIGM) MANE Select | ENSP00000357069.2:p.Leu398Pro | |
| ENST00000509700.2:c.671+11287T>C (KCNJ10) | ||
| ENST00000637644.1:c.487+11499T>C (KCNJ10) | ENSP00000490282.1:n.487+11499T>C | |
| ENST00000639408.1:c.587+9955T>C (KCNJ10) | ENSP00000491635.1:n.587+9955T>C | |
| ENST00000640914.1:c.224+9955T>C (KCNJ10) | ||
| ENST00000368090.3:c.1193T>C (PIGM) | ENSP00000357069.2:p.Leu398Pro | |
| NM_145167.2:c.1193T>C (PIGM) | NP_660150.1:p.Leu398Pro | |
| NM_145167.3:c.1193T>C (PIGM) MANE Select | NP_660150.1:p.Leu398Pro |