Linked Data
ClinVar Variation Id:
735776
ClinVar RCV Id:
RCV000911361
dbSNP Id:
rs374553356
ExAC:
5:90119311 T / C
gnomAD v2:
5-90119311-T-C
gnomAD v3:
5-90823494-T-C
gnomAD v4:
5-90823494-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823494T>C , CM000667.2:g.90823494T>C | GRCh38 |
| NC_000005.9:g.90119311T>C , CM000667.1:g.90119311T>C | GRCh37 |
| NC_000005.8:g.90155067T>C | NCBI36 |
| NG_007083.1:g.269695T>C | |
| NG_007083.2:g.299151T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16266T>C MANE Select | ENSP00000384582.2:p.Asp5422= | |
| ENST00000425867.3:c.5220T>C | ENSP00000392618.3:p.Asp1740= | |
| ENST00000638510.1:n.3533T>C | ||
| ENST00000639431.1:c.265+147285T>C | ENSP00000491057.1:n.265+147285T>C | |
| ENST00000640061.1:n.128+1312T>C | ||
| ENST00000640407.1:c.2676T>C | ENSP00000491425.1:p.Asp892= | |
| ENST00000405460.6:c.16266T>C | ENSP00000384582.2:p.Asp5422= | |
| ENST00000425867.2:c.3249T>C | ENSP00000392618.2:p.Asp1083= | |
| NM_032119.3:c.16266T>C | NP_115495.3:p.Asp5422= | |
| NR_003149.1:n.16279T>C | ||
| XM_011543675.1:c.16263T>C | XP_011541977.1:p.Asp5421= | |
| XM_011543676.1:c.16185T>C | XP_011541978.1:p.Asp5395= | |
| XM_011543677.1:c.13569T>C | XP_011541979.1:p.Asp4523= | |
| NM_032119.4:c.16266T>C MANE Select | NP_115495.3:p.Asp5422= | |
| XM_017009963.2:c.16287T>C | XP_016865452.1:p.Asp5429= | |
| XM_017009964.2:c.16284T>C | XP_016865453.1:p.Asp5428= | |
| XM_017009965.1:c.16284T>C | XP_016865454.1:p.Asp5428= | |
| XM_017009966.2:c.16206T>C | XP_016865455.1:p.Asp5402= | |
| XM_017009967.1:c.16191T>C | XP_016865456.1:p.Asp5397= | |
| XM_017009968.2:c.16107T>C | XP_016865457.1:p.Asp5369= | |
| XM_017009969.2:c.16287T>C | XP_016865458.1:p.Asp5429= | |
| XM_017009972.1:c.9405T>C | XP_016865461.1:p.Asp3135= | |
| XM_017009973.1:c.9384T>C | XP_016865462.1:p.Asp3128= | |
| NR_003149.2:n.16282T>C |