Canonical Allele Identifier:
CA848194145
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.137906702C>G , CM000670.2:g.137906702C>G | GRCh38 |
| NC_000008.10:g.138918945C>G , CM000670.1:g.138918945C>G | GRCh37 |
| NC_000008.9:g.138988127C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928696.1:n.985+33024G>C | ||
| XR_928697.1:n.574-68817G>C | ||
| NM_001354876.1:c.250-68817G>C | NP_001341805.1:n.250-68817G>C | |
| XM_024447147.1:c.334-68817G>C | XP_024302915.1:n.334-68817G>C | |
| XM_024447148.1:c.334-68817G>C | XP_024302916.1:n.334-68817G>C | |
| XM_024447149.1:c.250-68817G>C | XP_024302917.1:n.250-68817G>C | |
| XM_024447150.1:c.136-68817G>C | XP_024302918.1:n.136-68817G>C | |
| XM_024447151.1:c.334-68817G>C | XP_024302919.1:n.334-68817G>C | |
| NR_161374.1:n.574-68817G>C |