Linked Data
ClinVar Variation Id:
286140
dbSNP Id:
rs374776250
ExAC:
7:128607452 T / C
gnomAD v2:
7-128607452-T-C
gnomAD v3:
7-128967398-T-C
gnomAD v4:
7-128967398-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128967398T>C , CM000669.2:g.128967398T>C | GRCh38 |
| NC_000007.13:g.128607452T>C , CM000669.1:g.128607452T>C | GRCh37 |
| NC_000007.12:g.128394688T>C | NCBI36 |
| NG_023428.1:g.92776A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.2599-6A>G MANE Select | ENSP00000265388.5:n.2599-6A>G | |
| ENST00000265388.9:c.2599-6A>G | ENSP00000265388.5:n.2599-6A>G | |
| ENST00000471166.1:c.2701-6A>G | ENSP00000418267.1:n.2701-6A>G | |
| ENST00000471234.5:c.2407-6A>G | ENSP00000418646.1:n.2407-6A>G | |
| ENST00000482320.5:c.2401-6A>G | ENSP00000420089.1:n.2401-6A>G | |
| ENST00000627585.2:c.2701-6A>G | ENSP00000487231.1:n.2701-6A>G | |
| NM_001191028.2:c.2407-6A>G | NP_001177957.2:n.2407-6A>G | |
| NM_012470.3:c.2599-6A>G | NP_036602.1:n.2599-6A>G | |
| NR_034053.2:n.3163-6A>G | ||
| XM_011515989.1:c.2401-6A>G | XP_011514291.1:n.2401-6A>G | |
| NM_001191028.3:c.2407-6A>G | NP_001177957.2:n.2407-6A>G | |
| NM_001382216.1:c.2701-6A>G | NP_001369145.1:n.2701-6A>G | |
| NM_001382217.1:c.2680-6A>G | NP_001369146.1:n.2680-6A>G | |
| NM_001382218.1:c.2599-6A>G | NP_001369147.1:n.2599-6A>G | |
| NM_001382219.1:c.2491-6A>G | NP_001369148.1:n.2491-6A>G | |
| NM_001382220.1:c.2458-6A>G | NP_001369149.1:n.2458-6A>G | |
| NM_001382221.1:c.2455-6A>G | NP_001369150.1:n.2455-6A>G | |
| NM_001382222.1:c.2452-6A>G | NP_001369151.1:n.2452-6A>G | |
| NM_001382223.1:c.2407-6A>G | NP_001369152.1:n.2407-6A>G | |
| NM_012470.4:c.2599-6A>G MANE Select | NP_036602.1:n.2599-6A>G | |
| NR_034053.3:n.3101-6A>G | ||
| NR_167911.1:n.3188-6A>G | ||
| NR_167912.1:n.3046-6A>G | ||
| NR_167913.1:n.2848-6A>G | ||
| NR_167914.1:n.3008-6A>G | ||
| NR_167915.1:n.3264-6A>G | ||
| NR_167916.1:n.2738-6A>G | ||
| NR_167917.1:n.2771-6A>G | ||
| NR_167918.1:n.3226-6A>G | ||
| NR_167919.1:n.3065-6A>G | ||
| NR_167920.1:n.3024-6A>G | ||
| NR_167921.1:n.3226-6A>G | ||
| NR_167922.1:n.3062-6A>G | ||
| NR_167923.1:n.2863-6A>G | ||
| NR_167924.1:n.2940-6A>G | ||
| NR_167925.1:n.2863-6A>G | ||
| NR_167926.1:n.2874-6A>G | ||
| NR_167927.1:n.3167-6A>G |