Linked Data
ClinVar Variation Id:
1561971
ClinVar RCV Id:
RCV002212217
dbSNP Id:
rs1442683277
gnomAD v4:
5-90627447-C-T
MyVariant Identifiers:
chr5:g.89923264C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627447C>T , CM000667.2:g.90627447C>T | GRCh38 |
| NC_000005.9:g.89923264C>T , CM000667.1:g.89923264C>T | GRCh37 |
| NC_000005.8:g.89959020C>T | NCBI36 |
| NG_007083.1:g.73648C>T | |
| NG_007083.2:g.103104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.909C>T MANE Select | ENSP00000384582.2:p.Ile303= | |
| ENST00000640083.1:n.614C>T | ||
| ENST00000640109.1:n.1005C>T | ||
| ENST00000640281.1:n.968C>T | ||
| ENST00000405460.6:c.909C>T | ENSP00000384582.2:p.Ile303= | |
| NM_032119.3:c.909C>T | NP_115495.3:p.Ile303= | |
| NR_003149.1:n.1005C>T | ||
| XM_011543675.1:c.909C>T | XP_011541977.1:p.Ile303= | |
| XM_011543676.1:c.909C>T | XP_011541978.1:p.Ile303= | |
| XM_011543678.1:c.909C>T | XP_011541980.1:p.Ile303= | |
| XM_011543679.1:c.909C>T | XP_011541981.1:p.Ile303= | |
| NM_032119.4:c.909C>T MANE Select | NP_115495.3:p.Ile303= | |
| XM_017009963.2:c.909C>T | XP_016865452.1:p.Ile303= | |
| XM_017009964.2:c.909C>T | XP_016865453.1:p.Ile303= | |
| XM_017009965.1:c.906C>T | XP_016865454.1:p.Ile302= | |
| XM_017009966.2:c.909C>T | XP_016865455.1:p.Ile303= | |
| XM_017009967.1:c.813C>T | XP_016865456.1:p.Ile271= | |
| XM_017009968.2:c.909C>T | XP_016865457.1:p.Ile303= | |
| XM_017009969.2:c.909C>T | XP_016865458.1:p.Ile303= | |
| XM_017009970.2:c.909C>T | XP_016865459.1:p.Ile303= | |
| XM_017009971.2:c.909C>T | XP_016865460.1:p.Ile303= | |
| XM_017009974.2:c.909C>T | XP_016865463.1:p.Ile303= | |
| NR_003149.2:n.1008C>T |