Linked Data
ClinVar Variation Id:
390662
dbSNP Id:
rs372906002
ExAC:
7:128694696 G / T
gnomAD v2:
7-128694696-G-T
gnomAD v3:
7-129054642-G-T
gnomAD v4:
7-129054642-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129054642G>T , CM000669.2:g.129054642G>T | GRCh38 |
| NC_000007.13:g.128694696G>T , CM000669.1:g.128694696G>T | GRCh37 |
| NC_000007.12:g.128481932G>T | NCBI36 |
| NG_023428.1:g.5532C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.120+9C>A MANE Select | ENSP00000265388.5:n.120+9C>A | |
| ENST00000265388.9:c.120+9C>A | ENSP00000265388.5:n.120+9C>A | |
| ENST00000471166.1:c.120+9C>A | ENSP00000418267.1:n.120+9C>A | |
| ENST00000471234.5:c.120+9C>A | ENSP00000418646.1:n.120+9C>A | |
| ENST00000482320.5:c.-240+9C>A | ENSP00000420089.1:n.-240+9C>A | |
| ENST00000627585.2:c.120+9C>A | ENSP00000487231.1:n.120+9C>A | |
| NM_001191028.2:c.120+9C>A | NP_001177957.2:n.120+9C>A | |
| NM_012470.3:c.120+9C>A | NP_036602.1:n.120+9C>A | |
| NR_034053.2:n.523+9C>A | ||
| NM_001191028.3:c.120+9C>A | NP_001177957.2:n.120+9C>A | |
| NM_001382216.1:c.120+9C>A | NP_001369145.1:n.120+9C>A | |
| NM_001382217.1:c.120+9C>A | NP_001369146.1:n.120+9C>A | |
| NM_001382218.1:c.120+9C>A | NP_001369147.1:n.120+9C>A | |
| NM_001382219.1:c.120+9C>A | NP_001369148.1:n.120+9C>A | |
| NM_001382220.1:c.120+9C>A | NP_001369149.1:n.120+9C>A | |
| NM_001382221.1:c.120+9C>A | NP_001369150.1:n.120+9C>A | |
| NM_001382222.1:c.120+9C>A | NP_001369151.1:n.120+9C>A | |
| NM_001382223.1:c.120+9C>A | NP_001369152.1:n.120+9C>A | |
| NM_012470.4:c.120+9C>A MANE Select | NP_036602.1:n.120+9C>A | |
| NR_034053.3:n.461+9C>A | ||
| NR_167911.1:n.461+9C>A | ||
| NR_167912.1:n.461+9C>A | ||
| NR_167913.1:n.461+9C>A | ||
| NR_167914.1:n.461+9C>A | ||
| NR_167915.1:n.461+9C>A | ||
| NR_167916.1:n.461+9C>A | ||
| NR_167917.1:n.461+9C>A | ||
| NR_167918.1:n.461+9C>A | ||
| NR_167919.1:n.461+9C>A | ||
| NR_167920.1:n.461+9C>A | ||
| NR_167921.1:n.461+9C>A | ||
| NR_167922.1:n.461+9C>A | ||
| NR_167923.1:n.461+9C>A | ||
| NR_167924.1:n.461+9C>A | ||
| NR_167925.1:n.461+9C>A | ||
| NR_167926.1:n.461+9C>A | ||
| NR_167927.1:n.461+9C>A |