Linked Data
ClinVar Variation Id:
364236
dbSNP Id:
rs368303175
ExAC:
9:103062857 C / T
gnomAD v2:
9-103062857-C-T
gnomAD v3:
9-100300575-C-T
gnomAD v4:
9-100300575-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100300575C>T , CM000671.2:g.100300575C>T | GRCh38 |
| NC_000009.11:g.103062857C>T , CM000671.1:g.103062857C>T | GRCh37 |
| NC_000009.10:g.102102678C>T | NCBI36 |
| NG_008316.1:g.206347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262457.7:c.3099C>T MANE Select | ENSP00000262457.2:p.Asn1033= | |
| ENST00000262456.6:c.2589C>T | ENSP00000262456.2:p.Asn863= | |
| ENST00000262457.6:c.3099C>T | ENSP00000262457.2:p.Asn1033= | |
| NM_014425.3:c.3099C>T | NP_055240.2:p.Asn1033= | |
| NM_183245.2:c.2589C>T | NP_899068.1:p.Asn863= | |
| NR_051962.1:n.3408C>T | ||
| XM_011518533.1:c.3091+2565C>T | XP_011516835.1:n.3091+2565C>T | |
| XM_011518539.1:c.2778C>T | XP_011516841.1:p.Asn926= | |
| XM_011518540.1:c.2778C>T | XP_011516842.1:p.Asn926= | |
| XM_011518541.1:c.2778C>T | XP_011516843.1:p.Asn926= | |
| XM_011518542.1:c.2301C>T | XP_011516844.1:p.Asn767= | |
| XM_011518543.1:c.2121C>T | XP_011516845.1:p.Asn707= | |
| XM_011518544.1:c.2121C>T | XP_011516846.1:p.Asn707= | |
| XR_242585.1:n.3282C>T | ||
| XR_242586.1:n.3306C>T | ||
| XR_428522.1:n.2796C>T | ||
| NM_001318381.1:c.2811C>T | NP_001305310.1:p.Asn937= | |
| NM_001318382.1:c.2121C>T | NP_001305311.1:p.Asn707= | |
| NM_014425.4:c.3099C>T | NP_055240.2:p.Asn1033= | |
| NR_134606.1:n.3306C>T | ||
| NM_014425.5:c.3099C>T MANE Select | NP_055240.2:p.Asn1033= | |
| NM_001318381.2:c.2811C>T | NP_001305310.1:p.Asn937= | |
| NM_001318382.2:c.2121C>T | NP_001305311.1:p.Asn707= | |
| NR_134606.2:n.3248C>T |