Linked Data
ClinVar Variation Id:
39837
dbSNP Id:
rs397515426
gnomAD v2:
16-89717994-G-A
gnomAD v3:
16-89651586-G-A
gnomAD v4:
16-89651586-G-A
PubMed:
PMID:23023333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89651586G>A , CM000678.2:g.89651586G>A | GRCh38 |
| NC_000016.9:g.89717994G>A , CM000678.1:g.89717994G>A | GRCh37 |
| NC_000016.8:g.88245495G>A | NCBI36 |
| NG_033005.1:g.11200C>T | |
| NG_033005.2:g.11200C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397901.8:c.88C>T MANE Select | ENSP00000380998.3:p.Gln30Ter | |
| ENST00000535997.7:c.88C>T | ENSP00000442120.3:p.Gln30Ter | |
| ENST00000549328.2:c.88C>T | ENSP00000447899.1:p.Gln30Ter | |
| ENST00000551981.6:n.175C>T | ||
| ENST00000674799.1:c.-105C>T | ENSP00000502267.1:n.-105C>T | |
| ENST00000675016.1:c.88C>T | ENSP00000502282.1:p.Gln30Ter | |
| ENST00000675076.1:n.84C>T | ||
| ENST00000675161.1:c.88C>T | ENSP00000501615.1:p.Gln30Ter | |
| ENST00000675309.1:c.88C>T | ENSP00000502291.1:p.Gln30Ter | |
| ENST00000675536.1:c.88C>T | ENSP00000501759.1:p.Gln30Ter | |
| ENST00000675778.1:c.88C>T | ENSP00000502825.1:p.Gln30Ter | |
| ENST00000675909.1:c.-105C>T | ENSP00000502022.1:n.-105C>T | |
| ENST00000675942.1:c.*527C>T | ENSP00000502409.1:n.*527C>T | |
| ENST00000675952.1:n.357C>T | ||
| ENST00000676118.1:c.88C>T | ENSP00000501619.1:p.Gln30Ter | |
| ENST00000676355.1:c.97C>T | ENSP00000502147.1:p.Gln33Ter | |
| ENST00000676402.1:c.88C>T | ENSP00000501794.1:p.Gln30Ter | |
| ENST00000397901.7:c.88C>T | ENSP00000380998.3:p.Gln30Ter | |
| ENST00000535997.6:c.-105C>T | ENSP00000442120.2:n.-105C>T | |
| ENST00000547614.5:n.201C>T | ||
| ENST00000549328.1:c.88C>T | ENSP00000447899.1:p.Gln30Ter | |
| ENST00000550102.5:c.88C>T | ENSP00000449243.1:p.Gln30Ter | |
| ENST00000550872.1:n.197C>T | ||
| ENST00000551981.5:n.105C>T | ||
| NM_001083314.3:c.68C>T | NP_001076783.1:p.Ala23Val | |
| NM_002768.4:c.88C>T | NP_002759.2:p.Gln30Ter | |
| NR_046418.2:n.285C>T | ||
| XM_011523097.1:c.413C>T | XP_011521399.1:p.Ala138Val | |
| XM_011523098.1:c.68C>T | XP_011521400.1:p.Ala23Val | |
| XM_011523099.1:c.413C>T | XP_011521401.1:p.Ala138Val | |
| NM_002768.5:c.88C>T MANE Select | NP_002759.2:p.Gln30Ter | |
| NM_001083314.4:c.68C>T | NP_001076783.1:p.Ala23Val | |
| NR_046418.3:n.208C>T |