Linked Data
ClinVar Variation Id:
134103
dbSNP Id:
rs537616689
ExAC:
19:45855588 C / T
gnomAD v2:
19-45855588-C-T
gnomAD v3:
19-45352330-C-T
gnomAD v4:
19-45352330-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352330C>T , CM000681.2:g.45352330C>T | GRCh38 |
| NC_000019.9:g.45855588C>T , CM000681.1:g.45855588C>T | GRCh37 |
| NC_000019.8:g.50547428C>T | NCBI36 |
| NG_007067.2:g.23258G>A , LRG_461:g.23258G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2069G>A | ENSP00000375808.4:p.Arg690Gln | |
| ENST00000682414.1:c.2069G>A | ENSP00000507019.1:p.Arg690Gln | |
| ENST00000682508.1:n.2098G>A | ||
| ENST00000684218.1:c.*1327G>A | ENSP00000507804.1:n.*1327G>A | |
| ENST00000684264.1:n.1625G>A | ||
| ENST00000684407.1:c.1946G>A | ENSP00000507775.1:p.Arg649Gln | |
| ENST00000684458.1:c.*555G>A | ENSP00000508260.1:n.*555G>A | |
| ENST00000684468.1:n.1781G>A | ||
| ENST00000391945.10:c.2069G>A MANE Select | ENSP00000375809.4:p.Arg690Gln | |
| ENST00000646507.1:n.2166G>A | ||
| ENST00000391941.6:c.1997G>A | ENSP00000375805.2:p.Arg666Gln | |
| ENST00000391942.6:n.1240G>A | ||
| ENST00000391944.7:c.1835G>A | ENSP00000375808.3:p.Arg612Gln | |
| ENST00000391945.8:c.2069G>A | ENSP00000375809.3:p.Arg690Gln | |
| ENST00000588652.5:n.2157G>A | ||
| NM_000400.3:c.2069G>A , LRG_461t1:c.2069G>A | NP_000391.1:p.Arg690Gln | |
| XM_011526611.1:c.1991G>A | XP_011524913.1:p.Arg664Gln | |
| XM_011526611.2:c.1991G>A | XP_011524913.1:p.Arg664Gln | |
| XM_017026467.1:c.1946G>A | XP_016881956.1:p.Arg649Gln | |
| XR_001753633.2:n.2116G>A | ||
| XR_001753634.2:n.2052G>A | ||
| NM_000400.4:c.2069G>A MANE Select | NP_000391.1:p.Arg690Gln |