Linked Data
ClinVar Variation Id:
223995
ClinVar RCV Id:
RCV000209097
dbSNP Id:
rs533348490
gnomAD v2:
14-68758509-T-C
gnomAD v3:
14-68291792-T-C
gnomAD v4:
14-68291792-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68291792T>C , CM000676.2:g.68291792T>C | GRCh38 |
| NC_000014.8:g.68758509T>C , CM000676.1:g.68758509T>C | GRCh37 |
| NC_000014.7:g.67828262T>C | NCBI36 |
| NG_023267.1:g.477001T>C | |
| NG_023267.2:g.477014T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460526.6:c.757-92T>C | ENSP00000518559.1:n.757-92T>C | |
| ENST00000471583.6:c.757-92T>C MANE Select | ENSP00000418859.1:n.757-92T>C | |
| ENST00000460526.5:n.76-92T>C | ||
| ENST00000468382.5:n.550-92T>C | ||
| ENST00000469165.6:n.76-92T>C | ||
| ENST00000471583.5:c.757-92T>C | ENSP00000418859.1:n.757-92T>C | |
| ENST00000478014.5:n.104-92T>C | ||
| ENST00000479335.5:c.*528-92T>C | ENSP00000417408.1:n.*528-92T>C | |
| ENST00000487270.5:c.757-92T>C | ENSP00000419471.1:n.757-92T>C | |
| ENST00000487861.5:c.757-92T>C | ENSP00000419881.1:n.757-92T>C | |
| ENST00000488612.5:c.757-92T>C | ENSP00000420061.1:n.757-92T>C | |
| ENST00000492236.5:n.287-92T>C | ||
| ENST00000497460.5:n.217-92T>C | ||
| ENST00000553595.5:n.413-92T>C | ||
| ENST00000554244.5:n.139-92T>C | ||
| ENST00000557045.5:n.115-92T>C | ||
| NM_002877.5:c.757-92T>C | NP_002868.1:n.757-92T>C | |
| NM_133509.3:c.757-92T>C | NP_598193.2:n.757-92T>C | |
| NM_133510.3:c.757-92T>C | NP_598194.1:n.757-92T>C | |
| XM_005267963.2:c.757-92T>C | XP_005268020.1:n.757-92T>C | |
| XM_011537047.1:c.757-92T>C | XP_011535349.1:n.757-92T>C | |
| XM_011537048.1:c.757-92T>C | XP_011535350.1:n.757-92T>C | |
| XM_011537049.1:c.757-92T>C | XP_011535351.1:n.757-92T>C | |
| XR_943503.1:n.1128-92T>C | ||
| NM_001321809.1:c.757-92T>C | NP_001308738.1:n.757-92T>C | |
| NM_001321810.1:c.757-92T>C | NP_001308739.1:n.757-92T>C | |
| NM_001321812.1:c.757-92T>C | NP_001308741.1:n.757-92T>C | |
| NM_001321814.1:c.757-92T>C | NP_001308743.1:n.757-92T>C | |
| NM_001321815.1:c.643-92T>C | NP_001308744.1:n.643-92T>C | |
| NM_001321817.1:c.400-92T>C | NP_001308746.1:n.400-92T>C | |
| NM_001321818.1:c.757-92T>C | NP_001308747.1:n.757-92T>C | |
| NM_001321819.1:c.757-92T>C | NP_001308748.1:n.757-92T>C | |
| NM_001321821.1:c.757-92T>C | NP_001308750.1:n.757-92T>C | |
| XM_017021545.2:c.1051-92T>C | XP_016877034.1:n.1051-92T>C | |
| XM_017021546.1:c.454-92T>C | XP_016877035.1:n.454-92T>C | |
| XM_017021547.1:c.400-92T>C | XP_016877036.1:n.400-92T>C | |
| XM_017021548.1:c.25-92T>C | XP_016877037.1:n.25-92T>C | |
| NM_001321817.2:c.400-92T>C | NP_001308746.1:n.400-92T>C | |
| NM_002877.6:c.757-92T>C | NP_002868.1:n.757-92T>C | |
| NM_133509.4:c.757-92T>C | NP_598193.2:n.757-92T>C | |
| NM_133510.4:c.757-92T>C MANE Select | NP_598194.1:n.757-92T>C | |
| NM_001321809.2:c.757-92T>C | NP_001308738.1:n.757-92T>C | |
| NM_001321810.2:c.757-92T>C | NP_001308739.1:n.757-92T>C | |
| NM_001321814.2:c.757-92T>C | NP_001308743.1:n.757-92T>C | |
| NM_001321818.2:c.757-92T>C | NP_001308747.1:n.757-92T>C | |
| NM_001321821.2:c.757-92T>C | NP_001308750.1:n.757-92T>C | |
| NM_133509.5:c.757-92T>C | NP_598193.2:n.757-92T>C |