Linked Data
ClinVar Variation Id:
257969
dbSNP Id:
rs199528866
ExAC:
5:13944555 G / A
gnomAD v2:
5-13944555-G-A
gnomAD v3:
5-13944446-G-A
gnomAD v4:
5-13944446-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13944446G>A , CM000667.2:g.13944446G>A | GRCh38 |
| NC_000005.9:g.13944555G>A , CM000667.1:g.13944555G>A | GRCh37 |
| NC_000005.8:g.13997555G>A | NCBI36 |
| NG_013081.1:g.5035C>T | |
| NG_013081.2:g.5035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.-8C>T MANE Select | ENSP00000265104.4:n.-8C>T | |
| ENST00000681290.1:c.13-13202C>T | ENSP00000505288.1:n.13-13202C>T | |
| ENST00000265104.4:c.-8C>T | ENSP00000265104.4:n.-8C>T | |
| NM_001369.2:c.-8C>T | NP_001360.1:n.-8C>T | |
| XM_005248262.2:c.13-13202C>T | XP_005248319.1:n.13-13202C>T | |
| XM_011513990.1:c.-8C>T | XP_011512292.1:n.-8C>T | |
| XR_925598.1:n.200C>T | ||
| XM_005248262.3:c.166-13202C>T | XP_005248319.2:n.166-13202C>T | |
| XM_017009177.1:c.166-13202C>T | XP_016864666.1:n.166-13202C>T | |
| XM_017009178.1:c.-980+4971C>T | XP_016864667.1:n.-980+4971C>T | |
| XM_017009180.1:c.166-13202C>T | XP_016864669.1:n.166-13202C>T | |
| XM_017009181.1:c.166-13202C>T | XP_016864670.1:n.166-13202C>T | |
| XM_017009182.1:c.166-13202C>T | XP_016864671.1:n.166-13202C>T | |
| XM_017009183.1:c.166-13202C>T | XP_016864672.1:n.166-13202C>T | |
| XM_017009184.1:c.166-13202C>T | XP_016864673.1:n.166-13202C>T | |
| XM_017009187.1:c.166-13202C>T | XP_016864676.1:n.166-13202C>T | |
| XM_024454388.1:c.-2850+4971C>T | XP_024310156.1:n.-2850+4971C>T | |
| XM_024454389.1:c.-1903+4971C>T | XP_024310157.1:n.-1903+4971C>T | |
| XR_001742034.1:n.183-13202C>T | ||
| XR_001742035.1:n.183-13202C>T | ||
| NM_001369.3:c.-8C>T MANE Select | NP_001360.1:n.-8C>T |