Linked Data
ClinVar Variation Id:
595676
ClinVar RCV Id:
RCV000731296
dbSNP Id:
rs150545856
ExAC:
1:145522623 G / A
gnomAD v2:
1-145522623-G-A
gnomAD v3:
1-145912457-C-T
gnomAD v4:
1-145912457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912457C>T , CM000663.2:g.145912457C>T | GRCh38 |
| NC_000001.10:g.145522623G>A , CM000663.1:g.145522623G>A | GRCh37 |
| NC_000001.9:g.144233980G>A | NCBI36 |
| NG_033000.3:g.11468G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.484G>A MANE Select | ENSP00000358312.3:p.Gly162Arg | |
| ENST00000369306.7:c.484G>A | ENSP00000358312.3:p.Gly162Arg | |
| ENST00000537888.1:c.442G>A | ENSP00000437510.1:p.Gly148Arg | |
| NM_001184795.1:c.442G>A | NP_001171724.1:p.Gly148Arg | |
| NM_003846.2:c.484G>A | NP_003837.1:p.Gly162Arg | |
| NR_073491.1:n.716G>A | ||
| NR_073492.1:n.710G>A | ||
| NR_073493.2:n.932G>A | ||
| NM_003846.3:c.484G>A MANE Select | NP_003837.1:p.Gly162Arg | |
| NR_073491.2:n.509G>A | ||
| NR_073492.2:n.503G>A |