Linked Data
ClinVar Variation Id:
3002695
ClinVar RCV Id:
RCV003860286
dbSNP Id:
rs1180246193
gnomAD v2:
11-65307525-C-T
gnomAD v4:
11-65540054-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65540054C>T , CM000673.2:g.65540054C>T | GRCh38 |
| NC_000011.9:g.65307525C>T , CM000673.1:g.65307525C>T | GRCh37 |
| NC_000011.8:g.65064101C>T | NCBI36 |
| NG_016437.1:g.23175G>A | |
| NG_047172.1:g.19990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.*2607G>A | ENSP00000435146.2:n.*2607G>A | |
| ENST00000526927.6:c.2390-173G>A | ENSP00000431219.2:n.2390-173G>A | |
| ENST00000529582.6:n.1386G>A | ||
| ENST00000530866.6:c.3077G>A | ENSP00000435276.2:p.Gly1026Glu | |
| ENST00000532661.6:c.254-173G>A | ENSP00000436341.2:n.254-173G>A | |
| ENST00000685178.1:n.2917-173G>A | ||
| ENST00000688764.1:n.1746-173G>A | ||
| ENST00000689505.1:c.3221G>A | ENSP00000510401.1:p.Gly1074Glu | |
| ENST00000301873.11:c.3344G>A MANE Select | ENSP00000301873.5:p.Gly1115Glu | |
| ENST00000301873.9:c.3344G>A | ENSP00000301873.5:p.Gly1115Glu | |
| ENST00000322147.8:c.3245-173G>A | ENSP00000326647.4:n.3245-173G>A | |
| ENST00000526927.5:c.2196-173G>A | ||
| ENST00000528516.5:c.*2890-173G>A | ENSP00000432350.1:n.*2890-173G>A | |
| ENST00000529189.5:c.254-173G>A | ENSP00000434406.1:n.254-173G>A | |
| ENST00000529371.5:c.5-173G>A | ENSP00000436032.1:n.5-173G>A | |
| ENST00000529582.5:n.1058G>A | ||
| ENST00000530785.5:c.353G>A | ENSP00000434315.1:p.Gly118Glu | |
| ENST00000530866.5:c.3077G>A | ENSP00000435276.1:p.Gly1026Glu | |
| ENST00000532661.5:c.254-173G>A | ENSP00000436341.1:n.254-173G>A | |
| ENST00000532932.5:c.1634G>A | ENSP00000435530.1:p.Gly545Glu | |
| ENST00000536982.5:c.353G>A | ENSP00000441912.2:p.Gly118Glu | |
| NM_001130144.2:c.3344G>A | NP_001123616.1:p.Gly1115Glu | |
| NM_001164266.1:c.2894-173G>A | NP_001157738.1:n.2894-173G>A | |
| NM_021070.4:c.3245-173G>A | NP_066548.2:n.3245-173G>A | |
| XM_011545032.1:c.3371G>A | XP_011543334.1:p.Gly1124Glu | |
| XM_011545033.1:c.3272-173G>A | XP_011543335.1:n.3272-173G>A | |
| XM_011545032.2:c.3371G>A | XP_011543334.1:p.Gly1124Glu | |
| XM_011545033.3:c.3272-173G>A | XP_011543335.1:n.3272-173G>A | |
| XR_001747875.2:n.3811G>A | ||
| XR_949928.3:n.3712-173G>A | ||
| NM_001130144.3:c.3344G>A MANE Select | NP_001123616.1:p.Gly1115Glu |