dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35702206A>C , CM000668.2:g.35702206A>C | GRCh38 |
| NC_000006.11:g.35669983A>C , CM000668.1:g.35669983A>C | GRCh37 |
| NC_000006.10:g.35777961A>C | NCBI36 |
| NG_012645.2:g.31378T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536438.5:c.-20+18122T>G | ENSP00000444810.1:n.-20+18122T>G | |
| NM_001145775.2:c.-20+18122T>G | NP_001139247.1:n.-20+18122T>G | |
| NM_001145775.3:c.-20+18122T>G | NP_001139247.1:n.-20+18122T>G |