dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41751113A>T , CM000666.2:g.41751113A>T | GRCh38 |
| NC_000004.11:g.41753130A>T , CM000666.1:g.41753130A>T | GRCh37 |
| NC_000004.10:g.41447887A>T | NCBI36 |
| NG_008243.1:g.2858T>A , LRG_513:g.2858T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741668.1:n.294+2527A>T | ||
| XR_001741669.1:n.294+2527A>T | ||
| XR_001741670.1:n.294+2527A>T | ||
| XR_001741671.1:n.294+2527A>T | ||
| XR_925256.2:n.294+2527A>T |