Linked Data
ClinVar Variation Id:
1785645
ClinVar RCV Id:
RCV002423957
dbSNP Id:
rs1971832952
gnomAD v4:
19-45352313-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352313A>G , CM000681.2:g.45352313A>G | GRCh38 |
| NC_000019.9:g.45855571A>G , CM000681.1:g.45855571A>G | GRCh37 |
| NC_000019.8:g.50547411A>G | NCBI36 |
| NG_007067.2:g.23275T>C , LRG_461:g.23275T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2086T>C | ENSP00000375808.4:p.Trp696Arg | |
| ENST00000682414.1:c.2086T>C | ENSP00000507019.1:p.Trp696Arg | |
| ENST00000682508.1:n.2115T>C | ||
| ENST00000684218.1:c.*1344T>C | ENSP00000507804.1:n.*1344T>C | |
| ENST00000684264.1:n.1642T>C | ||
| ENST00000684407.1:c.1963T>C | ENSP00000507775.1:p.Trp655Arg | |
| ENST00000684458.1:c.*572T>C | ENSP00000508260.1:n.*572T>C | |
| ENST00000684468.1:n.1798T>C | ||
| ENST00000391945.10:c.2086T>C MANE Select | ENSP00000375809.4:p.Trp696Arg | |
| ENST00000646507.1:n.2183T>C | ||
| ENST00000391941.6:c.2014T>C | ENSP00000375805.2:p.Trp672Arg | |
| ENST00000391942.6:n.1257T>C | ||
| ENST00000391944.7:c.1852T>C | ENSP00000375808.3:p.Trp618Arg | |
| ENST00000391945.8:c.2086T>C | ENSP00000375809.3:p.Trp696Arg | |
| ENST00000588652.5:n.2174T>C | ||
| NM_000400.3:c.2086T>C , LRG_461t1:c.2086T>C | NP_000391.1:p.Trp696Arg | |
| XM_011526611.1:c.2008T>C | XP_011524913.1:p.Trp670Arg | |
| XM_011526611.2:c.2008T>C | XP_011524913.1:p.Trp670Arg | |
| XM_017026467.1:c.1963T>C | XP_016881956.1:p.Trp655Arg | |
| XR_001753633.2:n.2133T>C | ||
| XR_001753634.2:n.2069T>C | ||
| NM_000400.4:c.2086T>C MANE Select | NP_000391.1:p.Trp696Arg |