Linked Data
ClinVar Variation Id:
501443
dbSNP Id:
rs1486585360
gnomAD v2:
7-128615997-G-C
gnomAD v3:
7-128975943-G-C
gnomAD v4:
7-128975943-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128975943G>C , CM000669.2:g.128975943G>C | GRCh38 |
| NC_000007.13:g.128615997G>C , CM000669.1:g.128615997G>C | GRCh37 |
| NC_000007.12:g.128403233G>C | NCBI36 |
| NG_023428.1:g.84231C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.2062-8C>G MANE Select | ENSP00000265388.5:n.2062-8C>G | |
| ENST00000265388.9:c.2062-8C>G | ENSP00000265388.5:n.2062-8C>G | |
| ENST00000471166.1:c.2164-8C>G | ENSP00000418267.1:n.2164-8C>G | |
| ENST00000471234.5:c.1870-8C>G | ENSP00000418646.1:n.1870-8C>G | |
| ENST00000482320.5:c.1864-8C>G | ENSP00000420089.1:n.1864-8C>G | |
| ENST00000627585.2:c.2164-8C>G | ENSP00000487231.1:n.2164-8C>G | |
| NM_001191028.2:c.1870-8C>G | NP_001177957.2:n.1870-8C>G | |
| NM_012470.3:c.2062-8C>G | NP_036602.1:n.2062-8C>G | |
| NR_034053.2:n.2626-8C>G | ||
| XM_011515989.1:c.1864-8C>G | XP_011514291.1:n.1864-8C>G | |
| NM_001191028.3:c.1870-8C>G | NP_001177957.2:n.1870-8C>G | |
| NM_001382216.1:c.2164-8C>G | NP_001369145.1:n.2164-8C>G | |
| NM_001382217.1:c.2143-8C>G | NP_001369146.1:n.2143-8C>G | |
| NM_001382218.1:c.2062-8C>G | NP_001369147.1:n.2062-8C>G | |
| NM_001382219.1:c.1954-8C>G | NP_001369148.1:n.1954-8C>G | |
| NM_001382220.1:c.1921-8C>G | NP_001369149.1:n.1921-8C>G | |
| NM_001382221.1:c.1918-8C>G | NP_001369150.1:n.1918-8C>G | |
| NM_001382222.1:c.1915-8C>G | NP_001369151.1:n.1915-8C>G | |
| NM_001382223.1:c.1870-8C>G | NP_001369152.1:n.1870-8C>G | |
| NM_012470.4:c.2062-8C>G MANE Select | NP_036602.1:n.2062-8C>G | |
| NR_034053.3:n.2564-8C>G | ||
| NR_167911.1:n.2651-8C>G | ||
| NR_167912.1:n.2509-8C>G | ||
| NR_167913.1:n.2311-8C>G | ||
| NR_167914.1:n.2471-8C>G | ||
| NR_167915.1:n.2564-8C>G | ||
| NR_167916.1:n.2201-8C>G | ||
| NR_167917.1:n.2234-8C>G | ||
| NR_167918.1:n.2689-8C>G | ||
| NR_167919.1:n.2528-8C>G | ||
| NR_167920.1:n.2487-8C>G | ||
| NR_167921.1:n.2689-8C>G | ||
| NR_167922.1:n.2525-8C>G | ||
| NR_167923.1:n.2326-8C>G | ||
| NR_167924.1:n.2403-8C>G | ||
| NR_167925.1:n.2326-8C>G | ||
| NR_167926.1:n.2337-8C>G | ||
| NR_167927.1:n.2630-8C>G |