ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127825G>A , CM000663.2:g.160127825G>A | GRCh38 |
| NC_000001.10:g.160097615G>A , CM000663.1:g.160097615G>A | GRCh37 |
| NC_000001.9:g.158364239G>A | NCBI36 |
| NG_008014.1:g.17068G>A , LRG_6:g.17068G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1017+5G>A MANE Select | ENSP00000354490.3:n.1017+5G>A | |
| ENST00000361216.7:c.1017+5G>A | ENSP00000354490.3:n.1017+5G>A | |
| ENST00000392233.7:c.1017+5G>A | ENSP00000376066.3:n.1017+5G>A | |
| ENST00000447527.1:c.149+5G>A | ||
| ENST00000472488.5:n.1120+5G>A | ||
| NM_000702.3:c.1017+5G>A | NP_000693.1:n.1017+5G>A | |
| NM_000702.4:c.1017+5G>A MANE Select | NP_000693.1:n.1017+5G>A |