Linked Data
dbSNP Id:
rs1417627045
gnomAD v2:
10-50701064-G-A
gnomAD v3:
10-49493018-G-A
gnomAD v4:
10-49493018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493018G>A , CM000672.2:g.49493018G>A | GRCh38 |
| NC_000010.10:g.50701064G>A , CM000672.1:g.50701064G>A | GRCh37 |
| NC_000010.9:g.50371070G>A | NCBI36 |
| NG_009442.1:g.51084C>T , LRG_465:g.51084C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.1821+99C>T MANE Select | ENSP00000348089.5:n.1821+99C>T | |
| ENST00000681632.1:n.1899+99C>T | ||
| ENST00000681659.1:c.1662+99C>T | ENSP00000505631.1:n.1662+99C>T | |
| ENST00000355832.9:c.1821+99C>T | ENSP00000348089.5:n.1821+99C>T | |
| ENST00000475116.1:n.275+7520C>T | ||
| ENST00000623073.3:c.222+99C>T | ENSP00000485650.1:n.222+99C>T | |
| ENST00000623115.3:c.-70+7520C>T | ENSP00000485321.1:n.-70+7520C>T | |
| ENST00000623318.1:c.222+99C>T | ENSP00000485423.1:n.222+99C>T | |
| NM_000124.3:c.1821+99C>T | NP_000115.1:n.1821+99C>T | |
| NM_001346440.1:c.1821+99C>T | NP_001333369.1:n.1821+99C>T | |
| NM_000124.4:c.1821+99C>T MANE Select | NP_000115.1:n.1821+99C>T | |
| NM_001346440.2:c.1821+99C>T | NP_001333369.1:n.1821+99C>T |