Linked Data
ClinVar Variation Id:
93252
ClinVar RCV Id:
RCV000148789
RCV000180740
RCV000287126
RCV000415198
RCV000584956
RCV001080400
RCV001796962
RCV002477227
dbSNP Id:
rs150396398
ExAC:
19:39057626 G / C
gnomAD v2:
19-39057626-G-C
gnomAD v3:
19-38566986-G-C
gnomAD v4:
19-38566986-G-C
ERepo:
CA024057/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38566986G>C , CM000681.2:g.38566986G>C | GRCh38 |
| NC_000019.9:g.39057626G>C , CM000681.1:g.39057626G>C | GRCh37 |
| NC_000019.8:g.43749466G>C | NCBI36 |
| NG_008866.1:g.138287G>C , LRG_766:g.138287G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593677.2:c.449G>C | ||
| ENST00000688602.1:c.1848-787G>C | ||
| ENST00000689936.1:c.1905G>C | ||
| ENST00000359596.8:c.13513G>C MANE Select | ENSP00000352608.2:p.Asp4505His | |
| ENST00000355481.8:c.13498G>C | ENSP00000347667.3:p.Asp4500His | |
| ENST00000359596.7:c.13513G>C | ENSP00000352608.2:p.Asp4505His | |
| ENST00000360985.7:c.13495G>C | ENSP00000354254.4:p.Asp4499His | |
| ENST00000593677.1:c.60G>C | ||
| NM_000540.2:c.13513G>C , LRG_766t1:c.13513G>C | NP_000531.2:p.Asp4505His | |
| NM_001042723.1:c.13498G>C | NP_001036188.1:p.Asp4500His | |
| XM_006723317.1:c.13495G>C | XP_006723380.1:p.Asp4499His | |
| XM_006723319.1:c.13480G>C | XP_006723382.1:p.Asp4494His | |
| XM_011527204.1:c.13510G>C | XP_011525506.1:p.Asp4504His | |
| XM_011527205.1:c.13513G>C | XP_011525507.1:p.Asp4505His | |
| XM_006723317.2:c.13495G>C | XP_006723380.1:p.Asp4499His | |
| XM_006723319.2:c.13480G>C | XP_006723382.1:p.Asp4494His | |
| XM_011527205.2:c.13513G>C | XP_011525507.1:p.Asp4505His | |
| NM_000540.3:c.13513G>C MANE Select | NP_000531.2:p.Asp4505His | |
| NM_001042723.2:c.13498G>C | NP_001036188.1:p.Asp4500His |