Linked Data
ClinVar Variation Id:
1122775
ClinVar RCV Id:
RCV001453570
dbSNP Id:
rs2154007218
MyVariant Identifiers:
chr11:g.68682417C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914949C>T , CM000673.2:g.68914949C>T | GRCh38 |
| NC_000011.9:g.68682417C>T , CM000673.1:g.68682417C>T | GRCh37 |
| NC_000011.8:g.68438993C>T | NCBI36 |
| NG_007976.1:g.16099C>T , LRG_250:g.16099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.838C>T MANE Select | ENSP00000255078.4:p.Leu280= | |
| ENST00000539224.2:c.967C>T | ||
| ENST00000674955.1:c.838C>T | ENSP00000502463.1:p.Leu280= | |
| ENST00000675118.1:c.185C>T | ||
| ENST00000675119.1:c.127C>T | ENSP00000501861.1:p.Leu43= | |
| ENST00000675305.1:c.127C>T | ENSP00000502365.1:p.Leu43= | |
| ENST00000675464.1:c.127C>T | ENSP00000502650.1:p.Leu43= | |
| ENST00000675615.1:c.838C>T | ENSP00000502413.1:p.Leu280= | |
| ENST00000675683.1:c.225C>T | ||
| ENST00000676173.1:n.882C>T | ||
| ENST00000676228.1:c.*161C>T | ENSP00000502375.1:n.*161C>T | |
| ENST00000676239.1:n.152C>T | ||
| ENST00000255078.7:c.838C>T | ENSP00000255078.3:p.Leu280= | |
| NM_002180.2:c.838C>T , LRG_250t1:c.838C>T | NP_002171.2:p.Leu280= | |
| XM_005273974.2:c.-174C>T | XP_005274031.1:n.-174C>T | |
| XM_005273976.1:c.838C>T | XP_005274033.1:p.Leu280= | |
| XR_247198.1:n.940C>T | ||
| XR_949903.1:n.940C>T | ||
| XM_005273976.2:c.838C>T | XP_005274033.1:p.Leu280= | |
| XM_017017669.2:c.-174C>T | XP_016873158.1:n.-174C>T | |
| XM_017017670.2:c.-174C>T | XP_016873159.1:n.-174C>T | |
| XM_017017671.2:c.838C>T | XP_016873160.1:p.Leu280= | |
| XR_949903.3:n.936C>T | ||
| NM_002180.3:c.838C>T MANE Select | NP_002171.2:p.Leu280= |