Linked Data
ClinVar Variation Id:
3016748
ClinVar RCV Id:
RCV003878883
dbSNP Id:
rs771036480
ExAC:
5:158747501 G / A
gnomAD v2:
5-158747501-G-A
gnomAD v4:
5-159320493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320493G>A , CM000667.2:g.159320493G>A | GRCh38 |
| NC_000005.9:g.158747501G>A , CM000667.1:g.158747501G>A | GRCh37 |
| NC_000005.8:g.158680079G>A | NCBI36 |
| NG_009618.1:g.14981C>T , LRG_71:g.14981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-121C>T | ENSP00000512849.1:n.-121C>T | |
| ENST00000696751.1:c.*5C>T | ENSP00000512850.1:n.*5C>T | |
| ENST00000231228.3:c.510C>T MANE Select | ENSP00000231228.2:p.Cys170= | |
| ENST00000231228.2:c.510C>T | ENSP00000231228.2:p.Cys170= | |
| NM_002187.2:c.510C>T , LRG_71t1:c.510C>T | NP_002178.2:p.Cys170= | |
| XR_001742945.1:n.44G>A | ||
| NM_002187.3:c.510C>T MANE Select | NP_002178.2:p.Cys170= |