Linked Data
dbSNP Id:
rs143862573
ExAC:
10:43615198 G / T
gnomAD v2:
10-43615198-G-T
gnomAD v4:
10-43119750-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43119750G>T , CM000672.2:g.43119750G>T | GRCh38 |
| NC_000010.10:g.43615198G>T , CM000672.1:g.43615198G>T | GRCh37 |
| NC_000010.9:g.42935204G>T | NCBI36 |
| NG_007489.1:g.47682G>T , LRG_518:g.47682G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.2211+5G>T | ENSP00000480088.2:n.2211+5G>T | |
| ENST00000683007.1:n.2181+5G>T | ||
| ENST00000683872.1:n.2172+5G>T | ||
| ENST00000340058.6:c.2607+5G>T | ENSP00000344798.4:n.2607+5G>T | |
| ENST00000355710.8:c.2607+5G>T MANE Select | ENSP00000347942.3:n.2607+5G>T | |
| ENST00000671844.1:c.*1201+5G>T | ENSP00000500541.1:n.*1201+5G>T | |
| ENST00000672389.1:c.*1201+5G>T | ENSP00000500252.1:n.*1201+5G>T | |
| ENST00000340058.5:c.2607+5G>T | ENSP00000344798.4:n.2607+5G>T | |
| ENST00000355710.7:c.2607+5G>T | ENSP00000347942.3:n.2607+5G>T | |
| ENST00000615310.4:c.1333+5G>T | ENSP00000480088.1:n.1333+5G>T | |
| NM_020630.4:c.2607+5G>T , LRG_518t2:c.2607+5G>T | NP_065681.1:n.2607+5G>T | |
| NM_020975.4:c.2607+5G>T , LRG_518t1:c.2607+5G>T | NP_066124.1:n.2607+5G>T | |
| XM_011540027.1:c.2607+5G>T | XP_011538329.1:n.2607+5G>T | |
| NM_001355216.1:c.1845+5G>T | NP_001342145.1:n.1845+5G>T | |
| NM_020630.5:c.2607+5G>T | NP_065681.1:n.2607+5G>T | |
| NM_020975.5:c.2607+5G>T | NP_066124.1:n.2607+5G>T | |
| NM_020975.6:c.2607+5G>T MANE Select | NP_066124.1:n.2607+5G>T | |
| NM_020630.6:c.2607+5G>T | NP_065681.1:n.2607+5G>T |