Linked Data
ClinVar Variation Id:
501775
dbSNP Id:
rs765613943
ExAC:
7:128607383 C / T
gnomAD v2:
7-128607383-C-T
gnomAD v3:
7-128967329-C-T
gnomAD v4:
7-128967329-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128967329C>T , CM000669.2:g.128967329C>T | GRCh38 |
| NC_000007.13:g.128607383C>T , CM000669.1:g.128607383C>T | GRCh37 |
| NC_000007.12:g.128394619C>T | NCBI36 |
| NG_023428.1:g.92845G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.2662G>A MANE Select | ENSP00000265388.5:p.Val888Ile | |
| ENST00000265388.9:c.2662G>A | ENSP00000265388.5:p.Val888Ile | |
| ENST00000471166.1:c.2764G>A | ENSP00000418267.1:p.Val922Ile | |
| ENST00000471234.5:c.2470G>A | ENSP00000418646.1:p.Val824Ile | |
| ENST00000482320.5:c.2464G>A | ENSP00000420089.1:p.Val822Ile | |
| ENST00000627585.2:c.2764G>A | ENSP00000487231.1:p.Val922Ile | |
| NM_001191028.2:c.2470G>A | NP_001177957.2:p.Val824Ile | |
| NM_012470.3:c.2662G>A | NP_036602.1:p.Val888Ile | |
| NR_034053.2:n.3226G>A | ||
| XM_011515989.1:c.2464G>A | XP_011514291.1:p.Val822Ile | |
| NM_001191028.3:c.2470G>A | NP_001177957.2:p.Val824Ile | |
| NM_001382216.1:c.2764G>A | NP_001369145.1:p.Val922Ile | |
| NM_001382217.1:c.2743G>A | NP_001369146.1:p.Val915Ile | |
| NM_001382218.1:c.2662G>A | NP_001369147.1:p.Val888Ile | |
| NM_001382219.1:c.2554G>A | NP_001369148.1:p.Val852Ile | |
| NM_001382220.1:c.2521G>A | NP_001369149.1:p.Val841Ile | |
| NM_001382221.1:c.2518G>A | NP_001369150.1:p.Val840Ile | |
| NM_001382222.1:c.2515G>A | NP_001369151.1:p.Val839Ile | |
| NM_001382223.1:c.2470G>A | NP_001369152.1:p.Val824Ile | |
| NM_012470.4:c.2662G>A MANE Select | NP_036602.1:p.Val888Ile | |
| NR_034053.3:n.3164G>A | ||
| NR_167911.1:n.3251G>A | ||
| NR_167912.1:n.3109G>A | ||
| NR_167913.1:n.2911G>A | ||
| NR_167914.1:n.3071G>A | ||
| NR_167915.1:n.3327G>A | ||
| NR_167916.1:n.2801G>A | ||
| NR_167917.1:n.2834G>A | ||
| NR_167918.1:n.3289G>A | ||
| NR_167919.1:n.3128G>A | ||
| NR_167920.1:n.3087G>A | ||
| NR_167921.1:n.3289G>A | ||
| NR_167922.1:n.3125G>A | ||
| NR_167923.1:n.2926G>A | ||
| NR_167924.1:n.3003G>A | ||
| NR_167925.1:n.2926G>A | ||
| NR_167926.1:n.2937G>A | ||
| NR_167927.1:n.3230G>A |