Linked Data
dbSNP Id:
rs556568326
gnomAD v2:
1-116281125-G-A
gnomAD v3:
1-115738504-G-A
gnomAD v4:
1-115738504-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115738504G>A , CM000663.2:g.115738504G>A | GRCh38 |
| NC_000001.10:g.116281125G>A , CM000663.1:g.116281125G>A | GRCh37 |
| NC_000001.9:g.116082648G>A | NCBI36 |
| NG_008802.1:g.35302C>T , LRG_404:g.35302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.145-169C>T | ENSP00000518226.1:n.145-169C>T | |
| ENST00000261448.6:c.421-169C>T MANE Select | ENSP00000261448.5:n.421-169C>T | |
| ENST00000261448.5:c.421-169C>T | ENSP00000261448.5:n.421-169C>T | |
| NM_001232.3:c.421-169C>T , LRG_404t1:c.421-169C>T | NP_001223.2:n.421-169C>T | |
| NM_001232.4:c.421-169C>T MANE Select | NP_001223.2:n.421-169C>T |