dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26489495A>G , CM000666.2:g.26489495A>G | GRCh38 |
| NC_000004.11:g.26491117A>G , CM000666.1:g.26491117A>G | GRCh37 |
| NC_000004.10:g.26100215A>G | NCBI36 |
| NG_012053.1:g.5926T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295589.4:c.113-11T>C MANE Select | ENSP00000295589.3:n.113-11T>C | |
| ENST00000295589.3:c.113-11T>C | ENSP00000295589.3:n.113-11T>C | |
| NM_000730.2:c.113-11T>C | NP_000721.1:n.113-11T>C | |
| NM_000730.3:c.113-11T>C MANE Select | NP_000721.1:n.113-11T>C |