Linked Data
dbSNP Id:
rs780088061
ExAC:
10:50668397 G / A
gnomAD v2:
10-50668397-G-A
gnomAD v3:
10-49460351-G-A
gnomAD v4:
10-49460351-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49460351G>A , CM000672.2:g.49460351G>A | GRCh38 |
| NC_000010.10:g.50668397G>A , CM000672.1:g.50668397G>A | GRCh37 |
| NC_000010.9:g.50338403G>A | NCBI36 |
| NG_009442.1:g.83751C>T , LRG_465:g.83751C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.4062+22C>T MANE Select | ENSP00000348089.5:n.4062+22C>T | |
| ENST00000679552.1:n.1155C>T | ||
| ENST00000679871.1:n.1208+22C>T | ||
| ENST00000679974.1:n.1111+22C>T | ||
| ENST00000681632.1:n.5465+22C>T | ||
| ENST00000681659.1:c.3903+22C>T | ENSP00000505631.1:n.3903+22C>T | |
| ENST00000355832.9:c.4062+22C>T | ENSP00000348089.5:n.4062+22C>T | |
| ENST00000465653.1:n.406C>T | ||
| ENST00000623073.3:c.*2358+22C>T | ENSP00000485650.1:n.*2358+22C>T | |
| ENST00000623115.3:c.2172+22C>T | ENSP00000485321.1:n.2172+22C>T | |
| ENST00000624341.3:c.1894+22C>T | ||
| NM_000124.3:c.4062+22C>T | NP_000115.1:n.4062+22C>T | |
| XR_945953.1:n.243-11214G>A | ||
| NM_001346440.1:c.4062+22C>T | NP_001333369.1:n.4062+22C>T | |
| NM_000124.4:c.4062+22C>T MANE Select | NP_000115.1:n.4062+22C>T | |
| NM_001346440.2:c.4062+22C>T | NP_001333369.1:n.4062+22C>T |