Linked Data
ClinVar Variation Id:
803568
dbSNP Id:
rs1599725250
MyVariant Identifiers:
chr19:g.45856061C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352803C>T , CM000681.2:g.45352803C>T | GRCh38 |
| NC_000019.9:g.45856061C>T , CM000681.1:g.45856061C>T | GRCh37 |
| NC_000019.8:g.50547901C>T | NCBI36 |
| NG_007067.2:g.22785G>A , LRG_461:g.22785G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1845G>A | ENSP00000375808.4:p.Gly615= | |
| ENST00000682414.1:c.1845G>A | ENSP00000507019.1:p.Gly615= | |
| ENST00000682508.1:n.1874G>A | ||
| ENST00000684218.1:c.*1103G>A | ENSP00000507804.1:n.*1103G>A | |
| ENST00000684264.1:n.1401G>A | ||
| ENST00000684407.1:c.1722G>A | ENSP00000507775.1:p.Gly574= | |
| ENST00000684458.1:c.*331G>A | ENSP00000508260.1:n.*331G>A | |
| ENST00000684468.1:n.1557G>A | ||
| ENST00000391945.10:c.1845G>A MANE Select | ENSP00000375809.4:p.Gly615= | |
| ENST00000646507.1:n.1942G>A | ||
| ENST00000391941.6:c.1773G>A | ENSP00000375805.2:p.Gly591= | |
| ENST00000391942.6:n.1016G>A | ||
| ENST00000391944.7:c.1611G>A | ENSP00000375808.3:p.Gly537= | |
| ENST00000391945.8:c.1845G>A | ENSP00000375809.3:p.Gly615= | |
| ENST00000588652.5:n.1933G>A | ||
| NM_000400.3:c.1845G>A , LRG_461t1:c.1845G>A | NP_000391.1:p.Gly615= | |
| XM_011526611.1:c.1767G>A | XP_011524913.1:p.Gly589= | |
| XM_011526611.2:c.1767G>A | XP_011524913.1:p.Gly589= | |
| XM_017026467.1:c.1722G>A | XP_016881956.1:p.Gly574= | |
| XR_001753633.2:n.1892G>A | ||
| XR_001753634.2:n.1828G>A | ||
| NM_000400.4:c.1845G>A MANE Select | NP_000391.1:p.Gly615= |