dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39667123T>C , CM000663.2:g.39667123T>C | GRCh38 |
| NC_000001.10:g.40132795T>C , CM000663.1:g.40132795T>C | GRCh37 |
| NC_000001.9:g.39905382T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235628.2:c.136-887A>G MANE Select | ENSP00000235628.1:n.136-887A>G | |
| ENST00000235628.1:c.136-887A>G | ENSP00000235628.1:n.136-887A>G | |
| NM_032526.2:c.136-887A>G | NP_115915.1:n.136-887A>G | |
| NM_032526.3:c.136-887A>G MANE Select | NP_115915.1:n.136-887A>G |