Linked Data
ClinVar Variation Id:
264679
dbSNP Id:
rs758439420
gnomAD v2:
19-45855609-C-T
gnomAD v3:
19-45352351-C-T
gnomAD v4:
19-45352351-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352351C>T , CM000681.2:g.45352351C>T | GRCh38 |
| NC_000019.9:g.45855609C>T , CM000681.1:g.45855609C>T | GRCh37 |
| NC_000019.8:g.50547449C>T | NCBI36 |
| NG_007067.2:g.23237G>A , LRG_461:g.23237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2048G>A | ENSP00000375808.4:p.Arg683Gln | |
| ENST00000682414.1:c.2048G>A | ENSP00000507019.1:p.Arg683Gln | |
| ENST00000682508.1:n.2077G>A | ||
| ENST00000684218.1:c.*1306G>A | ENSP00000507804.1:n.*1306G>A | |
| ENST00000684264.1:n.1604G>A | ||
| ENST00000684407.1:c.1925G>A | ENSP00000507775.1:p.Arg642Gln | |
| ENST00000684458.1:c.*534G>A | ENSP00000508260.1:n.*534G>A | |
| ENST00000684468.1:n.1760G>A | ||
| ENST00000391945.10:c.2048G>A MANE Select | ENSP00000375809.4:p.Arg683Gln | |
| ENST00000646507.1:n.2145G>A | ||
| ENST00000391941.6:c.1976G>A | ENSP00000375805.2:p.Arg659Gln | |
| ENST00000391942.6:n.1219G>A | ||
| ENST00000391944.7:c.1814G>A | ENSP00000375808.3:p.Arg605Gln | |
| ENST00000391945.8:c.2048G>A | ENSP00000375809.3:p.Arg683Gln | |
| ENST00000588652.5:n.2136G>A | ||
| NM_000400.3:c.2048G>A , LRG_461t1:c.2048G>A | NP_000391.1:p.Arg683Gln | |
| XM_011526611.1:c.1970G>A | XP_011524913.1:p.Arg657Gln | |
| XM_011526611.2:c.1970G>A | XP_011524913.1:p.Arg657Gln | |
| XM_017026467.1:c.1925G>A | XP_016881956.1:p.Arg642Gln | |
| XR_001753633.2:n.2095G>A | ||
| XR_001753634.2:n.2031G>A | ||
| NM_000400.4:c.2048G>A MANE Select | NP_000391.1:p.Arg683Gln |