Linked Data
ClinVar Variation Id:
285176
dbSNP Id:
rs376328601
ExAC:
18:2697987 T / C
gnomAD v2:
18-2697987-T-C
gnomAD v3:
18-2697989-T-C
gnomAD v4:
18-2697989-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2697989T>C , CM000680.2:g.2697989T>C | GRCh38 |
| NC_000018.9:g.2697987T>C , CM000680.1:g.2697987T>C | GRCh37 |
| NC_000018.8:g.2687987T>C | NCBI36 |
| NG_031972.1:g.47102T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684915.1:n.1447T>C | ||
| ENST00000688342.1:c.1290T>C | ENSP00000508422.1:p.His430= | |
| ENST00000693213.1:n.568T>C | ||
| ENST00000320876.11:c.1290T>C MANE Select | ENSP00000326603.7:p.His430= | |
| ENST00000320876.10:c.1290T>C | ENSP00000326603.6:p.His430= | |
| NM_015295.2:c.1290T>C | NP_056110.2:p.His430= | |
| XM_011525642.1:c.1290T>C | XP_011523944.1:p.His430= | |
| XM_011525643.1:c.1290T>C | XP_011523945.1:p.His430= | |
| XM_011525644.1:c.906T>C | XP_011523946.1:p.His302= | |
| XM_011525645.1:c.726T>C | XP_011523947.1:p.His242= | |
| XM_011525646.1:c.1290T>C | XP_011523948.1:p.His430= | |
| XM_011525647.1:c.1290T>C | XP_011523949.1:p.His430= | |
| XR_430039.1:n.1479T>C | ||
| XR_935054.1:n.1479T>C | ||
| XR_935055.1:n.1479T>C | ||
| XM_011525643.2:c.1290T>C | XP_011523945.1:p.His430= | |
| XM_017025684.1:c.726T>C | XP_016881173.1:p.His242= | |
| XR_001753172.1:n.1479T>C | ||
| XR_001753173.1:n.1479T>C | ||
| XR_001753174.1:n.1479T>C | ||
| XR_001753175.1:n.1479T>C | ||
| XR_001753176.1:n.1479T>C | ||
| XR_001753177.1:n.1479T>C | ||
| XR_001753178.1:n.1479T>C | ||
| XR_001753179.1:n.1479T>C | ||
| XR_935055.2:n.1479T>C | ||
| NM_015295.3:c.1290T>C MANE Select | NP_056110.2:p.His430= |