Linked Data
ClinVar Variation Id:
502530
dbSNP Id:
rs751765105
ExAC:
9:103055143 C / T
gnomAD v2:
9-103055143-C-T
gnomAD v3:
9-100292861-C-T
gnomAD v4:
9-100292861-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100292861C>T , CM000671.2:g.100292861C>T | GRCh38 |
| NC_000009.11:g.103055143C>T , CM000671.1:g.103055143C>T | GRCh37 |
| NC_000009.10:g.102094964C>T | NCBI36 |
| NG_008316.1:g.198633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262457.7:c.2604C>T MANE Select | ENSP00000262457.2:p.Ser868= | |
| ENST00000262456.6:c.2180-86C>T | ENSP00000262456.2:n.2180-86C>T | |
| ENST00000262457.6:c.2604C>T | ENSP00000262457.2:p.Ser868= | |
| NM_014425.3:c.2604C>T | NP_055240.2:p.Ser868= | |
| NM_183245.2:c.2180-86C>T | NP_899068.1:n.2180-86C>T | |
| NR_051962.1:n.2913C>T | ||
| XM_005251923.3:c.2604C>T | XP_005251980.1:p.Ser868= | |
| XM_005251924.3:c.2316C>T | XP_005251981.1:p.Ser772= | |
| XM_011518531.1:c.2604C>T | XP_011516833.1:p.Ser868= | |
| XM_011518532.1:c.2604C>T | XP_011516834.1:p.Ser868= | |
| XM_011518533.1:c.2604C>T | XP_011516835.1:p.Ser868= | |
| XM_011518534.1:c.2316C>T | XP_011516836.1:p.Ser772= | |
| XM_011518535.1:c.2316C>T | XP_011516837.1:p.Ser772= | |
| XM_011518536.1:c.2316C>T | XP_011516838.1:p.Ser772= | |
| XM_011518537.1:c.2316C>T | XP_011516839.1:p.Ser772= | |
| XM_011518538.1:c.2316C>T | XP_011516840.1:p.Ser772= | |
| XM_011518539.1:c.2283C>T | XP_011516841.1:p.Ser761= | |
| XM_011518540.1:c.2283C>T | XP_011516842.1:p.Ser761= | |
| XM_011518541.1:c.2283C>T | XP_011516843.1:p.Ser761= | |
| XM_011518542.1:c.1892-86C>T | XP_011516844.1:n.1892-86C>T | |
| XM_011518543.1:c.1626C>T | XP_011516845.1:p.Ser542= | |
| XM_011518544.1:c.1626C>T | XP_011516846.1:p.Ser542= | |
| XR_242585.1:n.2860C>T | ||
| XR_242586.1:n.2811C>T | ||
| XR_428522.1:n.2387-86C>T | ||
| NM_001318381.1:c.2316C>T | NP_001305310.1:p.Ser772= | |
| NM_001318382.1:c.1626C>T | NP_001305311.1:p.Ser542= | |
| NM_014425.4:c.2604C>T | NP_055240.2:p.Ser868= | |
| NR_134606.1:n.2811C>T | ||
| NM_014425.5:c.2604C>T MANE Select | NP_055240.2:p.Ser868= | |
| NM_001318381.2:c.2316C>T | NP_001305310.1:p.Ser772= | |
| NM_001318382.2:c.1626C>T | NP_001305311.1:p.Ser542= | |
| NR_134606.2:n.2753C>T |