Linked Data
ClinVar Variation Id:
46279
dbSNP Id:
rs146082509
ExAC:
5:90106548 C / T
gnomAD v2:
5-90106548-C-T
gnomAD v3:
5-90810731-C-T
gnomAD v4:
5-90810731-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90810731C>T , CM000667.2:g.90810731C>T | GRCh38 |
| NC_000005.9:g.90106548C>T , CM000667.1:g.90106548C>T | GRCh37 |
| NC_000005.8:g.90142304C>T | NCBI36 |
| NG_007083.1:g.256932C>T | |
| NG_007083.2:g.286388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.15471C>T MANE Select | ENSP00000384582.2:p.Ser5157= | |
| ENST00000425867.3:c.4425C>T | ENSP00000392618.3:p.Ser1475= | |
| ENST00000638510.1:n.2738C>T | ||
| ENST00000639431.1:c.265+134522C>T | ENSP00000491057.1:n.265+134522C>T | |
| ENST00000640407.1:c.1881C>T | ENSP00000491425.1:p.Ser627= | |
| ENST00000405460.6:c.15471C>T | ENSP00000384582.2:p.Ser5157= | |
| ENST00000425867.2:c.2454C>T | ENSP00000392618.2:p.Ser818= | |
| NM_032119.3:c.15471C>T | NP_115495.3:p.Ser5157= | |
| NR_003149.1:n.15484C>T | ||
| XM_011543675.1:c.15468C>T | XP_011541977.1:p.Ser5156= | |
| XM_011543676.1:c.15390C>T | XP_011541978.1:p.Ser5130= | |
| XM_011543677.1:c.12774C>T | XP_011541979.1:p.Ser4258= | |
| NM_032119.4:c.15471C>T MANE Select | NP_115495.3:p.Ser5157= | |
| XM_017009963.2:c.15492C>T | XP_016865452.1:p.Ser5164= | |
| XM_017009964.2:c.15489C>T | XP_016865453.1:p.Ser5163= | |
| XM_017009965.1:c.15489C>T | XP_016865454.1:p.Ser5163= | |
| XM_017009966.2:c.15411C>T | XP_016865455.1:p.Ser5137= | |
| XM_017009967.1:c.15396C>T | XP_016865456.1:p.Ser5132= | |
| XM_017009968.2:c.15312C>T | XP_016865457.1:p.Ser5104= | |
| XM_017009969.2:c.15492C>T | XP_016865458.1:p.Ser5164= | |
| XM_017009971.2:c.*425C>T | XP_016865460.1:n.*425C>T | |
| XM_017009972.1:c.8610C>T | XP_016865461.1:p.Ser2870= | |
| XM_017009973.1:c.8589C>T | XP_016865462.1:p.Ser2863= | |
| NR_003149.2:n.15487C>T |