Linked Data
ClinVar Variation Id:
227323
dbSNP Id:
rs202081804
ExAC:
5:13914082 A / G
gnomAD v2:
5-13914082-A-G
gnomAD v3:
5-13913973-A-G
gnomAD v4:
5-13913973-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13913973A>G , CM000667.2:g.13913973A>G | GRCh38 |
| NC_000005.9:g.13914082A>G , CM000667.1:g.13914082A>G | GRCh37 |
| NC_000005.8:g.13967082A>G | NCBI36 |
| NG_013081.1:g.35508T>C | |
| NG_013081.2:g.35508T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.1377-15T>C | ||
| ENST00000682376.1:n.5535T>C | ||
| ENST00000683011.1:n.1260-15T>C | ||
| ENST00000683967.1:n.3671T>C | ||
| ENST00000684013.1:n.1966T>C | ||
| ENST00000684099.1:n.1962T>C | ||
| ENST00000265104.5:c.1321-15T>C MANE Select | ENSP00000265104.4:n.1321-15T>C | |
| ENST00000680213.1:c.1081-15T>C | ENSP00000506622.1:n.1081-15T>C | |
| ENST00000681290.1:c.1276-15T>C | ENSP00000505288.1:n.1276-15T>C | |
| ENST00000265104.4:c.1321-15T>C | ENSP00000265104.4:n.1321-15T>C | |
| ENST00000508040.1:n.1729-15T>C | ||
| NM_001369.2:c.1321-15T>C | NP_001360.1:n.1321-15T>C | |
| XM_005248262.2:c.1276-15T>C | XP_005248319.1:n.1276-15T>C | |
| XM_011513990.1:c.1321-15T>C | XP_011512292.1:n.1321-15T>C | |
| XR_925598.1:n.1528-15T>C | ||
| XM_005248262.3:c.1429-15T>C | XP_005248319.2:n.1429-15T>C | |
| XM_017009177.1:c.1429-15T>C | XP_016864666.1:n.1429-15T>C | |
| XM_017009178.1:c.334-15T>C | XP_016864667.1:n.334-15T>C | |
| XM_017009179.2:c.334-15T>C | XP_016864668.1:n.334-15T>C | |
| XM_017009180.1:c.1429-15T>C | XP_016864669.1:n.1429-15T>C | |
| XM_017009181.1:c.1429-15T>C | XP_016864670.1:n.1429-15T>C | |
| XM_017009182.1:c.1429-15T>C | XP_016864671.1:n.1429-15T>C | |
| XM_017009183.1:c.1429-15T>C | XP_016864672.1:n.1429-15T>C | |
| XM_017009184.1:c.1429-15T>C | XP_016864673.1:n.1429-15T>C | |
| XM_017009187.1:c.1429-15T>C | XP_016864676.1:n.1429-15T>C | |
| XM_024454388.1:c.334-15T>C | XP_024310156.1:n.334-15T>C | |
| XM_024454389.1:c.-93T>C | XP_024310157.1:n.-93T>C | |
| XR_001742034.1:n.1446-15T>C | ||
| XR_001742035.1:n.1446-15T>C | ||
| NM_001369.3:c.1321-15T>C MANE Select | NP_001360.1:n.1321-15T>C |