Linked Data
ClinVar Variation Id:
583091
dbSNP Id:
rs781575677
gnomAD v3:
19-38573264-G-C
gnomAD v4:
19-38573264-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38573264G>C , CM000681.2:g.38573264G>C | GRCh38 |
| NC_000019.9:g.39063904G>C , CM000681.1:g.39063904G>C | GRCh37 |
| NC_000019.8:g.43755744G>C | NCBI36 |
| NG_008866.1:g.144565G>C , LRG_766:g.144565G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1022G>C | ||
| ENST00000688602.1:c.2419G>C | ||
| ENST00000689936.1:c.2391G>C | ||
| ENST00000359596.8:c.14086G>C MANE Select | ENSP00000352608.2:p.Asp4696His | |
| ENST00000355481.8:c.14071G>C | ENSP00000347667.3:p.Asp4691His | |
| ENST00000359596.7:c.14086G>C | ENSP00000352608.2:p.Asp4696His | |
| ENST00000360985.7:c.14068G>C | ENSP00000354254.4:p.Asp4690His | |
| NM_000540.2:c.14086G>C , LRG_766t1:c.14086G>C | NP_000531.2:p.Asp4696His | |
| NM_001042723.1:c.14071G>C | NP_001036188.1:p.Asp4691His | |
| XM_006723317.1:c.14068G>C | XP_006723380.1:p.Asp4690His | |
| XM_006723319.1:c.14053G>C | XP_006723382.1:p.Asp4685His | |
| XM_011527204.1:c.14083G>C | XP_011525506.1:p.Asp4695His | |
| XM_011527205.1:c.13999G>C | XP_011525507.1:p.Asp4667His | |
| XM_006723317.2:c.14068G>C | XP_006723380.1:p.Asp4690His | |
| XM_006723319.2:c.14053G>C | XP_006723382.1:p.Asp4685His | |
| XM_011527205.2:c.13999G>C | XP_011525507.1:p.Asp4667His | |
| NM_000540.3:c.14086G>C MANE Select | NP_000531.2:p.Asp4696His | |
| NM_001042723.2:c.14071G>C | NP_001036188.1:p.Asp4691His |