dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95713457A>T , CM000672.2:g.95713457A>T | GRCh38 |
| NC_000010.10:g.97473214A>T , CM000672.1:g.97473214A>T | GRCh37 |
| NC_000010.9:g.97463204A>T | NCBI36 |
| NG_042803.1:g.6679A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453258.6:c.37+1464A>T | ENSP00000390955.2:n.37+1464A>T | |
| NM_001098175.1:c.37+1464A>T | NP_001091645.1:n.37+1464A>T | |
| XM_011540371.1:c.37+1464A>T | XP_011538673.1:n.37+1464A>T | |
| XM_011540371.2:c.37+1464A>T | XP_011538673.1:n.37+1464A>T | |
| NM_001098175.2:c.37+1464A>T | NP_001091645.1:n.37+1464A>T |