Linked Data
ClinVar Variation Id:
1784760
ClinVar RCV Id:
RCV002419789
dbSNP Id:
rs1971844157
COSMIC:
COSM1165228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352522A>G , CM000681.2:g.45352522A>G | GRCh38 |
| NC_000019.9:g.45855780A>G , CM000681.1:g.45855780A>G | GRCh37 |
| NC_000019.8:g.50547620A>G | NCBI36 |
| NG_007067.2:g.23066T>C , LRG_461:g.23066T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2030T>C | ENSP00000375808.4:p.Met677Thr | |
| ENST00000682414.1:c.2030T>C | ENSP00000507019.1:p.Met677Thr | |
| ENST00000682508.1:n.2059T>C | ||
| ENST00000684218.1:c.*1288T>C | ENSP00000507804.1:n.*1288T>C | |
| ENST00000684264.1:n.1586T>C | ||
| ENST00000684407.1:c.1907T>C | ENSP00000507775.1:p.Met636Thr | |
| ENST00000684458.1:c.*516T>C | ENSP00000508260.1:n.*516T>C | |
| ENST00000684468.1:n.1742T>C | ||
| ENST00000391945.10:c.2030T>C MANE Select | ENSP00000375809.4:p.Met677Thr | |
| ENST00000646507.1:n.2127T>C | ||
| ENST00000391941.6:c.1958T>C | ENSP00000375805.2:p.Met653Thr | |
| ENST00000391942.6:n.1201T>C | ||
| ENST00000391944.7:c.1796T>C | ENSP00000375808.3:p.Met599Thr | |
| ENST00000391945.8:c.2030T>C | ENSP00000375809.3:p.Met677Thr | |
| ENST00000588652.5:n.2118T>C | ||
| NM_000400.3:c.2030T>C , LRG_461t1:c.2030T>C | NP_000391.1:p.Met677Thr | |
| XM_011526611.1:c.1952T>C | XP_011524913.1:p.Met651Thr | |
| XM_011526611.2:c.1952T>C | XP_011524913.1:p.Met651Thr | |
| XM_017026467.1:c.1907T>C | XP_016881956.1:p.Met636Thr | |
| XR_001753633.2:n.2077T>C | ||
| XR_001753634.2:n.2013T>C | ||
| NM_000400.4:c.2030T>C MANE Select | NP_000391.1:p.Met677Thr |