Linked Data
ClinVar Variation Id:
1786039
dbSNP Id:
rs1365927740
gnomAD v2:
19-45855548-A-G
gnomAD v4:
19-45352290-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352290A>G , CM000681.2:g.45352290A>G | GRCh38 |
| NC_000019.9:g.45855548A>G , CM000681.1:g.45855548A>G | GRCh37 |
| NC_000019.8:g.50547388A>G | NCBI36 |
| NG_007067.2:g.23298T>C , LRG_461:g.23298T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2109T>C | ENSP00000375808.4:p.Asp703= | |
| ENST00000682414.1:c.2109T>C | ENSP00000507019.1:p.Asp703= | |
| ENST00000682508.1:n.2138T>C | ||
| ENST00000684218.1:c.*1367T>C | ENSP00000507804.1:n.*1367T>C | |
| ENST00000684264.1:n.1665T>C | ||
| ENST00000684407.1:c.1986T>C | ENSP00000507775.1:p.Asp662= | |
| ENST00000684458.1:c.*595T>C | ENSP00000508260.1:n.*595T>C | |
| ENST00000684468.1:n.1821T>C | ||
| ENST00000391945.10:c.2109T>C MANE Select | ENSP00000375809.4:p.Asp703= | |
| ENST00000646507.1:n.2206T>C | ||
| ENST00000391941.6:c.2037T>C | ENSP00000375805.2:p.Asp679= | |
| ENST00000391942.6:n.1280T>C | ||
| ENST00000391944.7:c.1875T>C | ENSP00000375808.3:p.Asp625= | |
| ENST00000391945.8:c.2109T>C | ENSP00000375809.3:p.Asp703= | |
| ENST00000588652.5:n.2197T>C | ||
| NM_000400.3:c.2109T>C , LRG_461t1:c.2109T>C | NP_000391.1:p.Asp703= | |
| XM_011526611.1:c.2031T>C | XP_011524913.1:p.Asp677= | |
| XM_011526611.2:c.2031T>C | XP_011524913.1:p.Asp677= | |
| XM_017026467.1:c.1986T>C | XP_016881956.1:p.Asp662= | |
| XR_001753633.2:n.2156T>C | ||
| XR_001753634.2:n.2092T>C | ||
| NM_000400.4:c.2109T>C MANE Select | NP_000391.1:p.Asp703= |