Linked Data
ClinVar Variation Id:
285709
dbSNP Id:
rs199826657
ExAC:
7:128615972 G / A
gnomAD v2:
7-128615972-G-A
gnomAD v3:
7-128975918-G-A
gnomAD v4:
7-128975918-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128975918G>A , CM000669.2:g.128975918G>A | GRCh38 |
| NC_000007.13:g.128615972G>A , CM000669.1:g.128615972G>A | GRCh37 |
| NC_000007.12:g.128403208G>A | NCBI36 |
| NG_023428.1:g.84256C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.2079C>T MANE Select | ENSP00000265388.5:p.His693= | |
| ENST00000265388.9:c.2079C>T | ENSP00000265388.5:p.His693= | |
| ENST00000471166.1:c.2181C>T | ENSP00000418267.1:p.His727= | |
| ENST00000471234.5:c.1887C>T | ENSP00000418646.1:p.His629= | |
| ENST00000482320.5:c.1881C>T | ENSP00000420089.1:p.His627= | |
| ENST00000627585.2:c.2181C>T | ENSP00000487231.1:p.His727= | |
| NM_001191028.2:c.1887C>T | NP_001177957.2:p.His629= | |
| NM_012470.3:c.2079C>T | NP_036602.1:p.His693= | |
| NR_034053.2:n.2643C>T | ||
| XM_011515989.1:c.1881C>T | XP_011514291.1:p.His627= | |
| NM_001191028.3:c.1887C>T | NP_001177957.2:p.His629= | |
| NM_001382216.1:c.2181C>T | NP_001369145.1:p.His727= | |
| NM_001382217.1:c.2160C>T | NP_001369146.1:p.His720= | |
| NM_001382218.1:c.2079C>T | NP_001369147.1:p.His693= | |
| NM_001382219.1:c.1971C>T | NP_001369148.1:p.His657= | |
| NM_001382220.1:c.1938C>T | NP_001369149.1:p.His646= | |
| NM_001382221.1:c.1935C>T | NP_001369150.1:p.His645= | |
| NM_001382222.1:c.1932C>T | NP_001369151.1:p.His644= | |
| NM_001382223.1:c.1887C>T | NP_001369152.1:p.His629= | |
| NM_012470.4:c.2079C>T MANE Select | NP_036602.1:p.His693= | |
| NR_034053.3:n.2581C>T | ||
| NR_167911.1:n.2668C>T | ||
| NR_167912.1:n.2526C>T | ||
| NR_167913.1:n.2328C>T | ||
| NR_167914.1:n.2488C>T | ||
| NR_167915.1:n.2581C>T | ||
| NR_167916.1:n.2218C>T | ||
| NR_167917.1:n.2251C>T | ||
| NR_167918.1:n.2706C>T | ||
| NR_167919.1:n.2545C>T | ||
| NR_167920.1:n.2504C>T | ||
| NR_167921.1:n.2706C>T | ||
| NR_167922.1:n.2542C>T | ||
| NR_167923.1:n.2343C>T | ||
| NR_167924.1:n.2420C>T | ||
| NR_167925.1:n.2343C>T | ||
| NR_167926.1:n.2354C>T | ||
| NR_167927.1:n.2647C>T |