Linked Data
ClinVar Variation Id:
1154327
ClinVar RCV Id:
RCV001496299
dbSNP Id:
rs747745829
ExAC:
11:67815341 T / G
gnomAD v2:
11-67815341-T-G
gnomAD v3:
11-68047874-T-G
gnomAD v4:
11-68047874-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047874T>G , CM000673.2:g.68047874T>G | GRCh38 |
| NC_000011.9:g.67815341T>G , CM000673.1:g.67815341T>G | GRCh37 |
| NC_000011.8:g.67571917T>G | NCBI36 |
| NG_007878.1:g.13859T>G , LRG_115:g.13859T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.89-8T>G | ||
| ENST00000698254.1:c.993-8T>G | ENSP00000513629.1:n.993-8T>G | |
| ENST00000698255.1:c.1413-8T>G | ENSP00000513630.1:n.1413-8T>G | |
| ENST00000698256.1:c.930-8T>G | ||
| ENST00000698257.1:n.882-8T>G | ||
| ENST00000698258.1:n.591T>G | ||
| ENST00000698259.1:n.357T>G | ||
| ENST00000265686.8:c.1464-8T>G MANE Select | ENSP00000265686.3:n.1464-8T>G | |
| ENST00000265686.7:c.1464-8T>G | ENSP00000265686.3:n.1464-8T>G | |
| ENST00000525516.1:n.258-8T>G | ||
| ENST00000525724.5:n.776-8T>G | ||
| ENST00000528981.5:c.616-8T>G | ||
| ENST00000532635.5:c.816-8T>G | ENSP00000434407.1:n.816-8T>G | |
| ENST00000533005.5:n.569T>G | ||
| NM_006019.3:c.1464-8T>G | NP_006010.2:n.1464-8T>G | |
| NM_006053.3:c.816-8T>G | NP_006044.1:n.816-8T>G | |
| XM_005273709.2:c.1464-8T>G | XP_005273766.1:n.1464-8T>G | |
| XM_011544726.1:c.1464-8T>G | XP_011543028.1:n.1464-8T>G | |
| XM_011544727.1:c.1464-8T>G | XP_011543029.1:n.1464-8T>G | |
| XM_011544728.1:c.1464-8T>G | XP_011543030.1:n.1464-8T>G | |
| XM_011544729.1:c.1480-8T>G | XP_011543031.1:n.1480-8T>G | |
| XR_949754.1:n.1468-8T>G | ||
| NM_001351059.1:c.570-8T>G | NP_001337988.1:n.570-8T>G | |
| XM_024448320.1:c.1549T>G | XP_024304088.1:p.Cys517Gly | |
| XM_024448321.1:c.1549T>G | XP_024304089.1:p.Cys517Gly | |
| XM_024448322.1:c.1549T>G | XP_024304090.1:p.Cys517Gly | |
| XM_024448323.1:c.1549T>G | XP_024304091.1:p.Cys517Gly | |
| XM_024448324.1:c.1549T>G | XP_024304092.1:p.Cys517Gly | |
| XR_001747721.2:n.1588-8T>G | ||
| XR_001747722.1:n.1601-8T>G | ||
| XR_001747723.2:n.1601-8T>G | ||
| XR_002957115.1:n.1671T>G | ||
| NM_006019.4:c.1464-8T>G MANE Select | NP_006010.2:n.1464-8T>G | |
| NM_001351059.2:c.570-8T>G | NP_001337988.1:n.570-8T>G | |
| NM_006053.4:c.816-8T>G | NP_006044.1:n.816-8T>G |