Linked Data
ClinVar Variation Id:
225318
ClinVar RCV Id:
RCV000217677
RCV000293819
RCV000348697
RCV000393362
RCV000490461
RCV000387942
RCV002277571
RCV001510421
RCV003947688
dbSNP Id:
rs141430703
ExAC:
6:33154514 C / A
gnomAD v2:
6-33154514-C-A
gnomAD v3:
6-33186737-C-A
gnomAD v4:
6-33186737-C-A
PubMed:
PMID:23967202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33186737C>A , CM000668.2:g.33186737C>A | GRCh38 |
| NC_000006.11:g.33154514C>A , CM000668.1:g.33154514C>A | GRCh37 |
| NC_000006.10:g.33262492C>A | NCBI36 |
| NG_011589.1:g.10732G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682718.1:n.505G>T | ||
| ENST00000341947.7:c.688G>T MANE Select | ENSP00000339915.2:p.Gly230Trp | |
| ENST00000341947.6:c.688G>T | ENSP00000339915.2:p.Gly230Trp | |
| ENST00000361917.5:c.688G>T | ENSP00000355123.1:p.Gly230Trp | |
| ENST00000374708.8:c.688G>T | ENSP00000363840.4:p.Gly230Trp | |
| ENST00000395194.1:c.688G>T | ENSP00000378620.1:p.Gly230Trp | |
| ENST00000457788.5:c.688G>T | ENSP00000405520.1:p.Gly230Trp | |
| NM_001163771.1:c.688G>T | NP_001157243.1:p.Gly230Trp | |
| NM_080679.2:c.688G>T | NP_542410.2:p.Gly230Trp | |
| NM_080680.2:c.688G>T | NP_542411.2:p.Gly230Trp | |
| NM_080681.2:c.688G>T | NP_542412.2:p.Gly230Trp | |
| XM_011514298.1:c.-159G>T | XP_011512600.1:n.-159G>T | |
| XM_017010250.1:c.688G>T | XP_016865739.1:p.Gly230Trp | |
| NM_001163771.2:c.688G>T | NP_001157243.1:p.Gly230Trp | |
| NM_080680.3:c.688G>T MANE Select | NP_542411.2:p.Gly230Trp | |
| NM_080681.3:c.688G>T | NP_542412.2:p.Gly230Trp | |
| NM_080679.3:c.688G>T | NP_542410.2:p.Gly230Trp |