Linked Data
ClinVar Variation Id:
619161
ClinVar RCV Id:
RCV000758124
dbSNP Id:
rs62508574
ERepo:
CA16020939/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843745A>C , CM000674.2:g.102843745A>C | GRCh38 |
| NC_000012.11:g.103237523A>C , CM000674.1:g.103237523A>C | GRCh37 |
| NC_000012.10:g.101761653A>C | NCBI36 |
| NG_008690.1:g.78858T>G | |
| NG_008690.2:g.119666T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1100T>G MANE Select | ENSP00000448059.1:p.Leu367Arg | |
| ENST00000307000.7:c.1085T>G | ENSP00000303500.2:p.Leu362Arg | |
| ENST00000549247.6:n.859T>G | ||
| ENST00000551114.2:n.762T>G | ||
| ENST00000553106.5:c.1100T>G | ENSP00000448059.1:p.Leu367Arg | |
| ENST00000635477.1:c.204T>G | ||
| ENST00000635528.1:n.615T>G | ||
| NM_000277.1:c.1100T>G | NP_000268.1:p.Leu367Arg | |
| XM_011538422.1:c.1043T>G | XP_011536724.1:p.Leu348Arg | |
| NM_000277.2:c.1100T>G | NP_000268.1:p.Leu367Arg | |
| NM_001354304.1:c.1100T>G | NP_001341233.1:p.Leu367Arg | |
| NM_000277.3:c.1100T>G MANE Select | NP_000268.1:p.Leu367Arg | |
| NM_001354304.2:c.1100T>G | NP_001341233.1:p.Leu367Arg |