Linked Data
ClinVar Variation Id:
217896
ClinVar RCV Id:
RCV000236355
dbSNP Id:
rs879253813
gnomAD v2:
3-135969405-G-A
gnomAD v4:
3-136250563-G-A
PubMed:
PMID:27227689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136250563G>A , CM000665.2:g.136250563G>A | GRCh38 |
| NC_000003.11:g.135969405G>A , CM000665.1:g.135969405G>A | GRCh37 |
| NC_000003.10:g.137452095G>A | NCBI36 |
| NG_008939.1:g.5239G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.183+5G>A MANE Select | ENSP00000251654.4:n.183+5G>A | |
| ENST00000251654.8:c.183+5G>A | ENSP00000251654.4:n.183+5G>A | |
| ENST00000462637.5:c.183+5G>A | ENSP00000420391.1:n.183+5G>A | |
| ENST00000465423.5:c.183+5G>A | ENSP00000419263.1:n.183+5G>A | |
| ENST00000466072.5:c.183+5G>A | ENSP00000420158.1:n.183+5G>A | |
| ENST00000468777.5:c.183+5G>A | ENSP00000419129.1:n.183+5G>A | |
| ENST00000469217.5:c.183+5G>A | ENSP00000419027.1:n.183+5G>A | |
| ENST00000471595.5:c.183+5G>A | ENSP00000417549.1:n.183+5G>A | |
| ENST00000474833.5:n.168+5G>A | ||
| ENST00000478469.5:c.183+5G>A | ENSP00000420759.1:n.183+5G>A | |
| ENST00000482086.5:c.93+95G>A | ENSP00000417253.1:n.93+95G>A | |
| ENST00000483687.5:c.183+5G>A | ENSP00000420639.1:n.183+5G>A | |
| ENST00000484181.5:c.183+5G>A | ENSP00000417937.1:n.183+5G>A | |
| ENST00000490504.5:c.183+5G>A | ENSP00000418307.1:n.183+5G>A | |
| NM_000532.4:c.183+5G>A | NP_000523.2:n.183+5G>A | |
| NM_001178014.1:c.183+5G>A | NP_001171485.1:n.183+5G>A | |
| XM_011512873.1:c.183+5G>A | XP_011511175.1:n.183+5G>A | |
| XM_011512873.2:c.183+5G>A | XP_011511175.1:n.183+5G>A | |
| NM_000532.5:c.183+5G>A MANE Select | NP_000523.2:n.183+5G>A | |
| NM_001178014.2:c.183+5G>A | NP_001171485.1:n.183+5G>A |