Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176117262C>T , CM000664.2:g.176117262C>T | GRCh38 |
| NC_000002.11:g.176981990C>T , CM000664.1:g.176981990C>T | GRCh37 |
| NC_000002.10:g.176690236C>T | NCBI36 |
| NG_008133.2:g.10499C>T , LRG_246:g.10499C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249501.5:c.429C>T MANE Select | ENSP00000249501.4:p.Asn143= | |
| ENST00000249501.4:c.429C>T | ENSP00000249501.4:p.Asn143= | |
| ENST00000490088.2:n.570-1692C>T | ||
| ENST00000549469.1:n.617-1692C>T | ||
| NM_002148.3:c.429C>T , LRG_246t1:c.429C>T | NP_002139.2:p.Asn143= | |
| NM_002148.4:c.429C>T MANE Select | NP_002139.2:p.Asn143= |