Linked Data
ClinVar Variation Id:
283491
dbSNP Id:
rs567711266
ExAC:
7:128612641 T / C
gnomAD v2:
7-128612641-T-C
gnomAD v3:
7-128972587-T-C
gnomAD v4:
7-128972587-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128972587T>C , CM000669.2:g.128972587T>C | GRCh38 |
| NC_000007.13:g.128612641T>C , CM000669.1:g.128612641T>C | GRCh37 |
| NC_000007.12:g.128399877T>C | NCBI36 |
| NG_023428.1:g.87587A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.2274-5A>G MANE Select | ENSP00000265388.5:n.2274-5A>G | |
| ENST00000265388.9:c.2274-5A>G | ENSP00000265388.5:n.2274-5A>G | |
| ENST00000471166.1:c.2376-5A>G | ENSP00000418267.1:n.2376-5A>G | |
| ENST00000471234.5:c.2082-5A>G | ENSP00000418646.1:n.2082-5A>G | |
| ENST00000482320.5:c.2076-5A>G | ENSP00000420089.1:n.2076-5A>G | |
| ENST00000627585.2:c.2376-5A>G | ENSP00000487231.1:n.2376-5A>G | |
| NM_001191028.2:c.2082-5A>G | NP_001177957.2:n.2082-5A>G | |
| NM_012470.3:c.2274-5A>G | NP_036602.1:n.2274-5A>G | |
| NR_034053.2:n.2838-5A>G | ||
| XM_011515989.1:c.2076-5A>G | XP_011514291.1:n.2076-5A>G | |
| NM_001191028.3:c.2082-5A>G | NP_001177957.2:n.2082-5A>G | |
| NM_001382216.1:c.2376-5A>G | NP_001369145.1:n.2376-5A>G | |
| NM_001382217.1:c.2355-5A>G | NP_001369146.1:n.2355-5A>G | |
| NM_001382218.1:c.2274-5A>G | NP_001369147.1:n.2274-5A>G | |
| NM_001382219.1:c.2166-5A>G | NP_001369148.1:n.2166-5A>G | |
| NM_001382220.1:c.2133-5A>G | NP_001369149.1:n.2133-5A>G | |
| NM_001382221.1:c.2130-5A>G | NP_001369150.1:n.2130-5A>G | |
| NM_001382222.1:c.2127-5A>G | NP_001369151.1:n.2127-5A>G | |
| NM_001382223.1:c.2082-5A>G | NP_001369152.1:n.2082-5A>G | |
| NM_012470.4:c.2274-5A>G MANE Select | NP_036602.1:n.2274-5A>G | |
| NR_034053.3:n.2776-5A>G | ||
| NR_167911.1:n.2863-5A>G | ||
| NR_167912.1:n.2721-5A>G | ||
| NR_167913.1:n.2523-5A>G | ||
| NR_167914.1:n.2683-5A>G | ||
| NR_167915.1:n.2939-5A>G | ||
| NR_167916.1:n.2413-5A>G | ||
| NR_167917.1:n.2446-5A>G | ||
| NR_167918.1:n.2901-5A>G | ||
| NR_167919.1:n.2740-5A>G | ||
| NR_167920.1:n.2699-5A>G | ||
| NR_167921.1:n.2901-5A>G | ||
| NR_167922.1:n.2737-5A>G | ||
| NR_167923.1:n.2538-5A>G | ||
| NR_167924.1:n.2615-5A>G | ||
| NR_167925.1:n.2538-5A>G | ||
| NR_167926.1:n.2549-5A>G | ||
| NR_167927.1:n.2842-5A>G |