Linked Data
ClinVar Variation Id:
161615
ClinVar RCV Id:
RCV000149151
dbSNP Id:
rs193920886
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100033959G>A , CM000669.2:g.100033959G>A | GRCh38 |
| NC_000007.13:g.99631582G>A , CM000669.1:g.99631582G>A | GRCh37 |
| NC_000007.12:g.99469518G>A | NCBI36 |
| NG_051950.1:g.23408G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324306.11:c.1454G>A MANE Select | ENSP00000323148.6:p.Gly485Glu | |
| ENST00000324306.10:c.1454G>A | ENSP00000323148.6:p.Gly485Glu | |
| ENST00000426572.5:c.1346G>A | ENSP00000409172.1:p.Gly449Glu | |
| ENST00000535170.5:c.815G>A | ENSP00000443508.1:p.Gly272Glu | |
| ENST00000620510.1:c.1346G>A | ENSP00000480305.1:p.Gly449Glu | |
| NM_001287054.1:c.1346G>A | NP_001273983.1:p.Gly449Glu | |
| NM_001287055.1:c.815G>A | NP_001273984.1:p.Gly272Glu | |
| NM_003439.2:c.1454G>A | NP_003430.1:p.Gly485Glu | |
| XM_005250565.3:c.799+3584G>A | XP_005250622.1:n.799+3584G>A | |
| XM_011516559.1:c.1454G>A | XP_011514861.1:p.Gly485Glu | |
| NM_001287054.2:c.1346G>A | NP_001273983.1:p.Gly449Glu | |
| NM_001287055.2:c.815G>A | NP_001273984.1:p.Gly272Glu | |
| NM_001346579.1:c.799+3584G>A | NP_001333508.1:n.799+3584G>A | |
| NM_001346580.1:c.1346G>A | NP_001333509.1:p.Gly449Glu | |
| NM_001346581.1:c.1454G>A | NP_001333510.1:p.Gly485Glu | |
| NM_003439.3:c.1454G>A | NP_003430.1:p.Gly485Glu | |
| NR_144477.1:n.1967G>A | ||
| XM_011516559.3:c.1454G>A | XP_011514861.1:p.Gly485Glu | |
| XR_002956485.1:n.2709G>A | ||
| XR_927529.2:n.2413G>A | ||
| NM_003439.4:c.1454G>A MANE Select | NP_003430.1:p.Gly485Glu | |
| NM_001287054.3:c.1346G>A | NP_001273983.1:p.Gly449Glu | |
| NM_001346580.2:c.1346G>A | NP_001333509.1:p.Gly449Glu | |
| NM_001346581.2:c.1454G>A | NP_001333510.1:p.Gly485Glu | |
| NR_144477.2:n.1923G>A | ||
| NM_001287055.3:c.815G>A | NP_001273984.1:p.Gly272Glu | |
| NM_001346579.2:c.799+3584G>A | NP_001333508.1:n.799+3584G>A |