Linked Data
dbSNP Id:
rs766142244
ExAC:
1:116310901 G / A
gnomAD v2:
1-116310901-G-A
gnomAD v3:
1-115768280-G-A
gnomAD v4:
1-115768280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768280G>A , CM000663.2:g.115768280G>A | GRCh38 |
| NC_000001.10:g.116310901G>A , CM000663.1:g.116310901G>A | GRCh37 |
| NC_000001.9:g.116112424G>A | NCBI36 |
| NG_008802.1:g.5526C>T , LRG_404:g.5526C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-43+28C>T | ENSP00000518226.1:n.-43+28C>T | |
| ENST00000261448.6:c.234+28C>T MANE Select | ENSP00000261448.5:n.234+28C>T | |
| ENST00000261448.5:c.234+28C>T | ENSP00000261448.5:n.234+28C>T | |
| NM_001232.3:c.234+28C>T , LRG_404t1:c.234+28C>T | NP_001223.2:n.234+28C>T | |
| NM_001232.4:c.234+28C>T MANE Select | NP_001223.2:n.234+28C>T |