Linked Data
ClinVar Variation Id:
466598
dbSNP Id:
rs777575504
ExAC:
11:68682370 G / T
gnomAD v2:
11-68682370-G-T
gnomAD v3:
11-68914902-G-T
gnomAD v4:
11-68914902-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914902G>T , CM000673.2:g.68914902G>T | GRCh38 |
| NC_000011.9:g.68682370G>T , CM000673.1:g.68682370G>T | GRCh37 |
| NC_000011.8:g.68438946G>T | NCBI36 |
| NG_007976.1:g.16052G>T , LRG_250:g.16052G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.791G>T MANE Select | ENSP00000255078.4:p.Arg264Leu | |
| ENST00000539224.2:c.920G>T | ||
| ENST00000674955.1:c.791G>T | ENSP00000502463.1:p.Arg264Leu | |
| ENST00000675118.1:c.138G>T | ||
| ENST00000675119.1:c.80G>T | ENSP00000501861.1:p.Arg27Leu | |
| ENST00000675305.1:c.80G>T | ENSP00000502365.1:p.Arg27Leu | |
| ENST00000675464.1:c.80G>T | ENSP00000502650.1:p.Arg27Leu | |
| ENST00000675615.1:c.791G>T | ENSP00000502413.1:p.Arg264Leu | |
| ENST00000675683.1:c.178G>T | ||
| ENST00000676173.1:n.835G>T | ||
| ENST00000676228.1:c.*114G>T | ENSP00000502375.1:n.*114G>T | |
| ENST00000676239.1:n.105G>T | ||
| ENST00000255078.7:c.791G>T | ENSP00000255078.3:p.Arg264Leu | |
| ENST00000539224.1:c.*114G>T | ENSP00000440465.1:n.*114G>T | |
| NM_002180.2:c.791G>T , LRG_250t1:c.791G>T | NP_002171.2:p.Arg264Leu | |
| XM_005273974.2:c.-221G>T | XP_005274031.1:n.-221G>T | |
| XM_005273976.1:c.791G>T | XP_005274033.1:p.Arg264Leu | |
| XR_247198.1:n.893G>T | ||
| XR_949903.1:n.893G>T | ||
| XM_005273976.2:c.791G>T | XP_005274033.1:p.Arg264Leu | |
| XM_017017669.2:c.-221G>T | XP_016873158.1:n.-221G>T | |
| XM_017017670.2:c.-221G>T | XP_016873159.1:n.-221G>T | |
| XM_017017671.2:c.791G>T | XP_016873160.1:p.Arg264Leu | |
| XR_949903.3:n.889G>T | ||
| NM_002180.3:c.791G>T MANE Select | NP_002171.2:p.Arg264Leu |