Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150860030A>C , CM000667.2:g.150860030A>C | GRCh38 |
| NC_000005.9:g.150239592A>C , CM000667.1:g.150239592A>C | GRCh37 |
| NC_000005.8:g.150219785A>C | NCBI36 |
| NG_027809.2:g.18508A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000520549.1:c.158+11376A>C | ||
| XM_011537641.1:c.531+11376A>C | XP_011535943.1:n.531+11376A>C | |
| NM_001346557.1:c.531+11376A>C | NP_001333486.1:n.531+11376A>C | |
| NM_001346557.2:c.531+11376A>C | NP_001333486.1:n.531+11376A>C | |
| NR_170598.1:n.1646+11376A>C |