Linked Data
ClinVar Variation Id:
161708
ClinVar RCV Id:
RCV000149244
dbSNP Id:
rs193920995
ExAC:
4:155242176 C / T
gnomAD v2:
4-155242176-C-T
gnomAD v3:
4-154321024-C-T
gnomAD v4:
4-154321024-C-T
COSMIC:
COSM1178793
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154321024C>T , CM000666.2:g.154321024C>T | GRCh38 |
| NC_000004.11:g.155242176C>T , CM000666.1:g.155242176C>T | GRCh37 |
| NC_000004.10:g.155461626C>T | NCBI36 |
| NG_054879.1:g.175755G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357232.10:c.4375G>A MANE Select | ENSP00000349768.5:p.Gly1459Arg | |
| ENST00000623607.4:n.3009G>A | ||
| ENST00000357232.8:c.3009G>A | ||
| ENST00000623607.3:c.3010G>A | ENSP00000485514.1:p.Gly1004Arg | |
| NM_017639.3:c.3010G>A | NP_060109.2:p.Gly1004Arg | |
| XM_011532045.1:c.4375G>A | XP_011530347.1:p.Gly1459Arg | |
| XM_011532046.1:c.2044G>A | XP_011530348.1:p.Gly682Arg | |
| XM_011532047.1:c.1936G>A | XP_011530349.1:p.Gly646Arg | |
| XM_011532048.1:c.433G>A | XP_011530350.1:p.Gly145Arg | |
| NM_001358235.1:c.4375G>A | NP_001345164.1:p.Gly1459Arg | |
| XM_011532046.2:c.2044G>A | XP_011530348.1:p.Gly682Arg | |
| NM_001358235.2:c.4375G>A MANE Select | NP_001345164.1:p.Gly1459Arg |