Linked Data
dbSNP Id:
rs752462042
gnomAD v2:
7-114055826-C-T
gnomAD v3:
7-114415771-C-T
gnomAD v4:
7-114415771-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114415771C>T , CM000669.2:g.114415771C>T | GRCh38 |
| NC_000007.13:g.114055826C>T , CM000669.1:g.114055826C>T | GRCh37 |
| NC_000007.12:g.113843062C>T | NCBI36 |
| NG_007491.2:g.334462C>T | |
| NG_007491.3:g.334462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403559.9:c.-11+411C>T | ENSP00000385069.4:n.-11+411C>T | |
| ENST00000703612.1:c.-10-10731C>T | ENSP00000515396.1:n.-10-10731C>T | |
| ENST00000703613.1:c.-10-10731C>T | ENSP00000515397.1:n.-10-10731C>T | |
| ENST00000703614.1:c.-10-10731C>T | ENSP00000515398.1:n.-10-10731C>T | |
| ENST00000703615.1:c.-10-10731C>T | ENSP00000515399.1:n.-10-10731C>T | |
| ENST00000703616.1:c.-10-10731C>T | ENSP00000515400.1:n.-10-10731C>T | |
| ENST00000350908.9:c.-11+411C>T MANE Select | ENSP00000265436.7:n.-11+411C>T | |
| ENST00000393489.8:c.-11+411C>T | ENSP00000377129.4:n.-11+411C>T | |
| ENST00000350908.8:c.-11+411C>T | ENSP00000265436.7:n.-11+411C>T | |
| ENST00000378237.7:c.-11+411C>T | ENSP00000367482.3:n.-11+411C>T | |
| ENST00000393489.7:c.-345+411C>T | ENSP00000377129.3:n.-345+411C>T | |
| ENST00000393491.7:c.-287+411C>T | ENSP00000377130.3:n.-287+411C>T | |
| ENST00000393494.6:c.-11+1229C>T | ENSP00000377132.2:n.-11+1229C>T | |
| ENST00000393495.7:c.-11+411C>T | ENSP00000377133.3:n.-11+411C>T | |
| ENST00000393498.6:c.-11+411C>T | ENSP00000377135.2:n.-11+411C>T | |
| ENST00000403559.8:c.-11+411C>T | ENSP00000385069.4:n.-11+411C>T | |
| ENST00000408937.7:c.-11+411C>T | ENSP00000386200.3:n.-11+411C>T | |
| ENST00000412402.5:c.-10-10731C>T | ENSP00000405470.1:n.-10-10731C>T | |
| ENST00000440349.5:c.-10-10731C>T | ENSP00000395552.1:n.-10-10731C>T | |
| ENST00000441290.6:c.-10-10731C>T | ENSP00000416825.1:n.-10-10731C>T | |
| ENST00000459666.5:n.141+411C>T | ||
| ENST00000462331.5:c.-11+411C>T | ENSP00000418100.1:n.-11+411C>T | |
| ENST00000495516.1:n.342-10731C>T | ||
| ENST00000634411.1:c.-10-10731C>T | ENSP00000489135.1:n.-10-10731C>T | |
| ENST00000634623.1:c.-10-10731C>T | ENSP00000488944.1:n.-10-10731C>T | |
| ENST00000635109.1:c.-10-10731C>T | ENSP00000489457.1:n.-10-10731C>T | |
| ENST00000635638.1:c.-10-10731C>T | ENSP00000489073.1:n.-10-10731C>T | |
| NM_001172766.2:c.-11+411C>T | NP_001166237.1:n.-11+411C>T | |
| NM_014491.3:c.-11+411C>T | NP_055306.1:n.-11+411C>T | |
| NM_148898.3:c.-11+411C>T | NP_683696.2:n.-11+411C>T | |
| NM_148900.3:c.-11+411C>T | NP_683698.2:n.-11+411C>T | |
| NR_033766.1:n.394-10731C>T | ||
| NR_033767.1:n.364+411C>T | ||
| XM_011516706.1:c.-10-10731C>T | XP_011515008.1:n.-10-10731C>T | |
| XM_017012801.2:c.-10-10731C>T | XP_016868290.1:n.-10-10731C>T | |
| NM_014491.4:c.-11+411C>T MANE Select | NP_055306.1:n.-11+411C>T | |
| NM_001172766.3:c.-11+411C>T | NP_001166237.1:n.-11+411C>T | |
| NM_148898.4:c.-11+411C>T | NP_683696.2:n.-11+411C>T | |
| NR_033766.2:n.377-10731C>T | ||
| NR_033767.2:n.546+411C>T | ||
| NM_148900.4:c.-11+411C>T | NP_683698.2:n.-11+411C>T |