Linked Data
dbSNP Id:
rs755635333
ExAC:
5:158747272 G / A
gnomAD v2:
5-158747272-G-A
gnomAD v3:
5-159320264-G-A
gnomAD v4:
5-159320264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320264G>A , CM000667.2:g.159320264G>A | GRCh38 |
| NC_000005.9:g.158747272G>A , CM000667.1:g.158747272G>A | GRCh37 |
| NC_000005.8:g.158679850G>A | NCBI36 |
| NG_009618.1:g.15210C>T , LRG_71:g.15210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.67+42C>T | ENSP00000512849.1:n.67+42C>T | |
| ENST00000696751.1:c.*192+42C>T | ENSP00000512850.1:n.*192+42C>T | |
| ENST00000231228.3:c.697+42C>T MANE Select | ENSP00000231228.2:n.697+42C>T | |
| ENST00000231228.2:c.697+42C>T | ENSP00000231228.2:n.697+42C>T | |
| NM_002187.2:c.697+42C>T , LRG_71t1:c.697+42C>T | NP_002178.2:n.697+42C>T | |
| NM_002187.3:c.697+42C>T MANE Select | NP_002178.2:n.697+42C>T |