ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48379592A>G , CM000675.2:g.48379592A>G | GRCh38 |
| NC_000013.10:g.48953728A>G , CM000675.1:g.48953728A>G | GRCh37 |
| NC_000013.9:g.47851729A>G | NCBI36 |
| NG_009009.1:g.80846A>G , LRG_517:g.80846A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1333-2A>G MANE Select | ENSP00000267163.4:n.1333-2A>G | |
| ENST00000650461.1:c.1333-2A>G | ENSP00000497193.1:n.1333-2A>G | |
| ENST00000267163.4:c.1333-2A>G | ENSP00000267163.4:n.1333-2A>G | |
| NM_000321.2:c.1333-2A>G , LRG_517t1:c.1333-2A>G | NP_000312.2:n.1333-2A>G | |
| XM_011535171.1:c.1072-2A>G | XP_011533473.1:n.1072-2A>G | |
| XM_011535171.2:c.1072-2A>G | XP_011533473.1:n.1072-2A>G | |
| XR_002957522.1:n.40+243T>C | ||
| NM_000321.3:c.1333-2A>G MANE Select | NP_000312.2:n.1333-2A>G |