Linked Data
ClinVar Variation Id:
288188
dbSNP Id:
rs775746067
ExAC:
7:128622310 C / A
gnomAD v2:
7-128622310-C-A
gnomAD v3:
7-128982256-C-A
gnomAD v4:
7-128982256-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128982256C>A , CM000669.2:g.128982256C>A | GRCh38 |
| NC_000007.13:g.128622310C>A , CM000669.1:g.128622310C>A | GRCh37 |
| NC_000007.12:g.128409546C>A | NCBI36 |
| NG_023428.1:g.77918G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.1851G>T MANE Select | ENSP00000265388.5:p.Val617= | |
| ENST00000265388.9:c.1851G>T | ENSP00000265388.5:p.Val617= | |
| ENST00000471166.1:c.1953G>T | ENSP00000418267.1:p.Val651= | |
| ENST00000471234.5:c.1659G>T | ENSP00000418646.1:p.Val553= | |
| ENST00000482320.5:c.1653G>T | ENSP00000420089.1:p.Val551= | |
| ENST00000627585.2:c.1953G>T | ENSP00000487231.1:p.Val651= | |
| NM_001191028.2:c.1659G>T | NP_001177957.2:p.Val553= | |
| NM_012470.3:c.1851G>T | NP_036602.1:p.Val617= | |
| NR_034053.2:n.2415G>T | ||
| XM_011515989.1:c.1653G>T | XP_011514291.1:p.Val551= | |
| NM_001191028.3:c.1659G>T | NP_001177957.2:p.Val553= | |
| NM_001382216.1:c.1953G>T | NP_001369145.1:p.Val651= | |
| NM_001382217.1:c.1932G>T | NP_001369146.1:p.Val644= | |
| NM_001382218.1:c.1851G>T | NP_001369147.1:p.Val617= | |
| NM_001382219.1:c.1743G>T | NP_001369148.1:p.Val581= | |
| NM_001382220.1:c.1851G>T | NP_001369149.1:p.Val617= | |
| NM_001382221.1:c.1707G>T | NP_001369150.1:p.Val569= | |
| NM_001382222.1:c.1704G>T | NP_001369151.1:p.Val568= | |
| NM_001382223.1:c.1659G>T | NP_001369152.1:p.Val553= | |
| NM_012470.4:c.1851G>T MANE Select | NP_036602.1:p.Val617= | |
| NR_034053.3:n.2353G>T | ||
| NR_167911.1:n.2440G>T | ||
| NR_167912.1:n.2192G>T | ||
| NR_167913.1:n.2100G>T | ||
| NR_167914.1:n.2260G>T | ||
| NR_167915.1:n.2353G>T | ||
| NR_167916.1:n.2192G>T | ||
| NR_167917.1:n.2031+1912G>T | ||
| NR_167918.1:n.2478G>T | ||
| NR_167919.1:n.2317G>T | ||
| NR_167920.1:n.2478G>T | ||
| NR_167921.1:n.2478G>T | ||
| NR_167922.1:n.2314G>T | ||
| NR_167923.1:n.2317G>T | ||
| NR_167924.1:n.2192G>T | ||
| NR_167925.1:n.2123+1912G>T | ||
| NR_167926.1:n.2328G>T | ||
| NR_167927.1:n.2419G>T |