dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122452742G>T , CM000666.2:g.122452742G>T | GRCh38 |
| NC_000004.11:g.123373897G>T , CM000666.1:g.123373897G>T | GRCh37 |
| NC_000004.10:g.123593347G>T | NCBI36 |
| NG_016779.1:g.8754C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226730.5:c.352-880C>A MANE Select | ENSP00000226730.5:n.352-880C>A | |
| ENST00000226730.4:c.352-880C>A | ENSP00000226730.4:n.352-880C>A | |
| ENST00000477645.1:n.442-880C>A | ||
| NM_000586.3:c.352-880C>A | NP_000577.2:n.352-880C>A | |
| XM_017008177.1:c.351+968C>A | XP_016863666.1:n.351+968C>A | |
| NM_000586.4:c.352-880C>A MANE Select | NP_000577.2:n.352-880C>A |